Varaico: Literature-Extracted Genetic Variants

Gene:HERC2
Variant:p.I495delFs
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HERC2

NM_004667.6:p.I495delFs

Associated Papers

Delineating the expanding phenotype of HERC2-related disorders: The impact of biallelic loss of function versus missense variation.

Vincent KM et al.

Clinical Genetics, 2021

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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."