Publications:

Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: ABCA4: 2203C>T

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 4
• Table1.xls, sheet 3

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Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.

Genes

Shoshany, Nadav N; Weiner, Chen C; Safir, Margarita M; Einan-Lifshitz, Adi A; Pokroy, Russell R; Kol, Ayala A; Modai, Shira S; Shomron, Noam N; Pras, Eran E

Publication Date: 2019-10-18

Variant appearance in text: ABCA4: 2203C>T

PubMed Link: 31635417

Variant Present in the following documents:

• Main text
• genes-10-00825.pdf

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