Varaico: Literature-Extracted Genetic Variants

Gene:SH2B2
Variant:p.R180delFs
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SH2B2

NM_001359228.2:p.R180delFs

Associated Papers

Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

Podkrajsek KT et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."