Varaico: Literature-Extracted Genetic Variants

Gene:COL4A6
Variant:p.G476V
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COL4A6

NM_033641.4:p.G476V

Associated Papers

Translocation t(X;11)(q22;q25) in a woman with premature ovarian failure.

Saranya B et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013

A teenager with a t(X;17)(q22;q25) and ovarian failure.

Martínez-Valenzuela M et al.

Genetic Counseling (geneva, Switzerland), 2010

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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."