Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.E194*
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SH2B3

NM_005475.3:p.E194*

Associated Papers

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.

Kit V et al.

Jci Insight, 2021

34101622 (PubMed )
Supplement: jciinsight-6-148406-s192.xlsx › Nonsense_mutation
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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."