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 Full article

Journal

Genes
ISSN: 2073-4425

Output data

Year: 2023, Volume: 14, Number: 11, Article number : 2100, Pages count : DOI: 10.3390/genes14112100

Tags

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

Authors

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

Affiliations

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

Published online:

Nov 18, 2023

Web of science:	WOS:001113539500001
OpenAlex:	W4388795316

DB	Citing
Web of science	2
OpenAlex	3