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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
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A novel MERTK deletion is a common founder mutation in the Faroe Islands and is...
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A novel RNASEH2B splice site mutation responsible for Aicardi–Goutieres syndrome...
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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy...
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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy...
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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy...
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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SU...
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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SU...
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Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recess...
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Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recess...
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CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Ca...
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CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Ca...
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Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a...
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Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a...
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 :phenotype...
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