Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases

Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases Научная публикация

Журнал

Genes
ISSN: 2073-4425

Вых. Данные

Год: 2023, Том: 14, Номер: 11, Номер статьи : 2100, Страниц : DOI: 10.3390/genes14112100

Ключевые слова

rare disease; genetic variants; phenotypic heterogeneity; variant localization; variant interpretation

Авторы

Lazareva Tatyana E. ¹ , Barbitoff Yury A. ^1,2 , Nasykhova Yulia A, ¹ , Pavlova Nadezhda S. ² , Bogaychuk Polina M. ² , Glotov Andrey S. ¹

Организации

1	Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, 199034 St. Petersburg, Russia
2	Bioinformatics Institute, Kantemirovskaya St. 2A, 197342 St. Petersburg, Russia

Lazareva T.E. , Barbitoff Y.A. , Nasykhova Y.A. , Pavlova N.S. , Bogaychuk P.M. , Glotov A.S.
Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases
Genes. 2023. V.14. N11. 2100 . DOI: 10.3390/genes14112100 WOS OpenAlex

Опубликована online:

18 нояб. 2023 г.

Web of science:	WOS:001113539500001
OpenAlex:	W4388795316

БД	Цитирований
Web of science	2
OpenAlex	3