Varaico: Literature-Extracted Genetic Variants

Gene:C3orf52
Variant:p.E12*
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C3orf52

NM_024616.3:p.E12*

Associated Papers

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.

Malki L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."