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A molecular genetics approach to gene discovery of Mendelian diseases on the isl...
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A molecular genetics approach to gene discovery of Mendelian diseases on the isl...
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Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrh...
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Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrh...
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A VAMP1 Mutation Causes Chromosome 12p13 Hereditary Spastic Ataxia in Newfoundla...
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Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is cause...
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VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Familie...
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VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Familie...
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