Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.S65C
Back to variants list

SH2D1A

NM_002351.5:p.S65C

Associated Papers

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

McCreary D et al.

Jama Network Open, 2019

31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf

HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.

Aguilar-Martinez P et al.

Haematologica, 2010

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."