Varaico: Literature-Extracted Genetic Variants

Gene:HERC1
Variant:p.W875*
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HERC1

NM_003922.4:p.W875*

Associated Papers

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

HERC1 mutations in idiopathic intellectual disability.

Utine GE et al.

European Journal of Medical Genetics, 2017

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

Ortega-Recalde O et al.

Clinical Genetics, 2015

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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."