Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.Q204*
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GAPDH

NM_002046.7:p.Q204*

Associated Papers

The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.

Wyrwoll MJ et al.

American Journal of Human Genetics, 2022

36150389 (PubMed )
Supplement: mmc2.pdf

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

El Ghouzzi V et al.

Human Molecular Genetics, 2003

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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."