Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

Congenital autosomal recessive cataract with unknown genetic etiology is one of the most common Mendelian diseases among the Turkic-speaking Yakut population (Eastern Siberia, Russia). To identify the genetic cause of congenital cataract spread in this population, we performed whole-exome sequencing...

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Published in:Eur J Hum Genet
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2021
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8187664/
https://ncbi.nlm.nih.gov/pubmed/33767456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-021-00833-w
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