Varaico: Literature-Extracted Genetic Variants

Gene:YAP1
Variant:p.M330V
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YAP1

NM_001130145.3:p.M330V

Associated Papers

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Williamson KA et al.

American Journal of Human Genetics, 2014

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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."