Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
Year: 2021
Type: article
Study design: Observational Study
Authors: Nikolay A. Barashkov, Fedor A. Konovalov, Tuyara V. Borisova, Fedor M. Teryutin, Aisen V. Solovyev, Vera G. Pshennikova, Nadejda V. Sapojnikova, Lyubov S. Vychuzhina, Georgii P. Romanov, Nyurgun N. Gotovtsev, Igor V. Morozov, Alexander A. Bondar, Fedor A. Platonov, Tatiana E. Burtseva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova
Institutions: North-Eastern Federal University, Academy of Sciences of the Republic of Sakha, Novosibirsk State University, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Russian Academy of Sciences, Bashkir State University, Institute of Biochemistry and Genetics of Ufa Scientific Centre, Institute of Cytology and Genetics
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W3136689014