Clinical and Genetic Characterization of a Russian Family with Bardet–Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.
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| Title: | Clinical and Genetic Characterization of a Russian Family with Bardet–Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene. |
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| Authors: | Nikolaeva, Alexandra F.1 (AUTHOR) a_f_nikolaeva@mail.ru, Boyko, Timur V.1,2 (AUTHOR), Kadyshev, Vitaly V.1,3 (AUTHOR), Shestopalova, Elena A.1,3,4 (AUTHOR), Kuznetsova, Svetlana V.1,5 (AUTHOR), Panchenko, Elizabeth G.1,4,5,6 (AUTHOR), Tiulpakov, Anatoly N.1,6,7 (AUTHOR), Ryzhkova, Oxana P.1,8 (AUTHOR), Aripova, Tamara O.1,7 (AUTHOR), Hegay, Tatyana R.2,8 (AUTHOR), Kutsev, Sergey I.1,3 (AUTHOR), Sigin, Vladimir O.1,4 (AUTHOR) |
| Source: | Genes. Jun2026, Vol. 17 Issue 6, p614. 15p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 20734425 |
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| DOI: | 10.3390/genes17060614 |
