Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.K74R
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SH2D1A

NM_002351.5:p.K74R

Associated Papers

Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway.

Gaigne LP et al.

Gastro Hep Advances, 2026

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).

Casamayor-Polo L et al.

Critical Reviews in Clinical Laboratory Sciences, 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."