Varaico: Literature-Extracted Genetic Variants

Gene:WASHC3
Variant:p.L69F
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WASHC3

NM_016053.4:p.L69F

Associated Papers

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.

Jee YH et al.

Genetics in Medicine Open, 2025

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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."