Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.G16G
Back to variants list

SH2D1A

NM_002351.5:p.G16G

Associated Papers

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.

Ashton JJ et al.

Clinical and Translational Gastroenterology, 2020

32463623 (PubMed )
Supplement: ct9-11-e00129-s005.docx

Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.

Gifford CE et al.

Cytometry. Part B, Clinical Cytometry, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."