Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.S596C
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SH2B1

NM_001387430.1:p.S596C

Associated Papers

Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.

Grosse G et al.

Hormone Research in Paediatrics, 2017

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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."