Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.G815D
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ERCC6

NM_000124.4:p.G815D

Associated Papers

A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency.

Kuang L et al.

Molecular Genetics & Genomic Medicine, 2022

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.

Wang R et al.

Bmc Medical Genomics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."