Varaico: Literature-Extracted Genetic Variants

Gene:SHC2
Variant:p.H307D
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SHC2

NM_012435.3:p.H307D

Associated Papers

Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.

Hackett BC et al.

The British Journal of Dermatology, 2010

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

Vahlquist A et al.

The Journal of Investigative Dermatology, 2010

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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."