Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
Published in: | European Journal of Human Genetics |
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Format: | Article in Journal/Newspaper |
Language: | English |
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Springer Science and Business Media LLC
2021
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Online Access: | http://dx.doi.org/10.1038/s41431-021-00833-w http://www.nature.com/articles/s41431-021-00833-w.pdf http://www.nature.com/articles/s41431-021-00833-w |
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crspringernat:10.1038/s41431-021-00833-w 2023-05-15T18:44:32+02:00 Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene Barashkov, Nikolay A. Konovalov, Fedor A. Borisova, Tuyara V. Teryutin, Fedor M. Solovyev, Aisen V. Pshennikova, Vera G. Sapojnikova, Nadejda V. Vychuzhina, Lyubov S. Romanov, Georgii P. Gotovtsev, Nyurgun N. Morozov, Igor V. Bondar, Alexander A. Platonov, Fedor A. Burtseva, Tatiana E. Khusnutdinova, Elza K. Posukh, Olga L. Fedorova, Sardana A. Russian Foundation for Basic Research 2021 http://dx.doi.org/10.1038/s41431-021-00833-w http://www.nature.com/articles/s41431-021-00833-w.pdf http://www.nature.com/articles/s41431-021-00833-w en eng Springer Science and Business Media LLC https://www.springer.com/tdm https://www.springer.com/tdm European Journal of Human Genetics volume 29, issue 6, page 965-976 ISSN 1018-4813 1476-5438 Genetics (clinical) Genetics journal-article 2021 crspringernat https://doi.org/10.1038/s41431-021-00833-w 2022-01-04T16:28:40Z Article in Journal/Newspaper Yakut Siberia Springer Nature (via Crossref) European Journal of Human Genetics 29 6 965 976 |
institution |
Open Polar |
collection |
Springer Nature (via Crossref) |
op_collection_id |
crspringernat |
language |
English |
topic |
Genetics (clinical) Genetics |
spellingShingle |
Genetics (clinical) Genetics Barashkov, Nikolay A. Konovalov, Fedor A. Borisova, Tuyara V. Teryutin, Fedor M. Solovyev, Aisen V. Pshennikova, Vera G. Sapojnikova, Nadejda V. Vychuzhina, Lyubov S. Romanov, Georgii P. Gotovtsev, Nyurgun N. Morozov, Igor V. Bondar, Alexander A. Platonov, Fedor A. Burtseva, Tatiana E. Khusnutdinova, Elza K. Posukh, Olga L. Fedorova, Sardana A. Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene |
topic_facet |
Genetics (clinical) Genetics |
author2 |
Russian Foundation for Basic Research |
format |
Article in Journal/Newspaper |
author |
Barashkov, Nikolay A. Konovalov, Fedor A. Borisova, Tuyara V. Teryutin, Fedor M. Solovyev, Aisen V. Pshennikova, Vera G. Sapojnikova, Nadejda V. Vychuzhina, Lyubov S. Romanov, Georgii P. Gotovtsev, Nyurgun N. Morozov, Igor V. Bondar, Alexander A. Platonov, Fedor A. Burtseva, Tatiana E. Khusnutdinova, Elza K. Posukh, Olga L. Fedorova, Sardana A. |
author_facet |
Barashkov, Nikolay A. Konovalov, Fedor A. Borisova, Tuyara V. Teryutin, Fedor M. Solovyev, Aisen V. Pshennikova, Vera G. Sapojnikova, Nadejda V. Vychuzhina, Lyubov S. Romanov, Georgii P. Gotovtsev, Nyurgun N. Morozov, Igor V. Bondar, Alexander A. Platonov, Fedor A. Burtseva, Tatiana E. Khusnutdinova, Elza K. Posukh, Olga L. Fedorova, Sardana A. |
author_sort |
Barashkov, Nikolay A. |
title |
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene |
title_short |
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene |
title_full |
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene |
title_fullStr |
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene |
title_full_unstemmed |
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene |
title_sort |
autosomal recessive cataract (ctrct18) in the yakut population isolate of eastern siberia: a novel founder variant in the fyco1 gene |
publisher |
Springer Science and Business Media LLC |
publishDate |
2021 |
url |
http://dx.doi.org/10.1038/s41431-021-00833-w http://www.nature.com/articles/s41431-021-00833-w.pdf http://www.nature.com/articles/s41431-021-00833-w |
genre |
Yakut Siberia |
genre_facet |
Yakut Siberia |
op_source |
European Journal of Human Genetics volume 29, issue 6, page 965-976 ISSN 1018-4813 1476-5438 |
op_rights |
https://www.springer.com/tdm https://www.springer.com/tdm |
op_doi |
https://doi.org/10.1038/s41431-021-00833-w |
container_title |
European Journal of Human Genetics |
container_volume |
29 |
container_issue |
6 |
container_start_page |
965 |
op_container_end_page |
976 |
_version_ |
1766235219646480384 |