Varaico: Literature-Extracted Genetic Variants

Gene:WASHC1
Variant:p.M6K
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WASHC1

NM_001378090.1:p.M6K

Associated Papers

CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.

Singla A et al.

Bmc Medical Genomics, 2025

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.

Bartuzi P et al.

Nature Communications, 2016

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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."