Varaico: Literature-Extracted Genetic Variants

Gene:SHC2
Variant:p.L532R
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SHC2

NM_012435.3:p.L532R

Associated Papers

Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma.

Cardenas R et al.

Plos One, 2023

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Justice AE et al.

Nature Genetics, 2019

30778226 (PubMed )
Supplement: NIHMS1016010-supplement-SupplementaryData4.xlsx › SD4._Suggestive_SNVs-CombSexes
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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."