Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP3B
Variant:p.G1195R
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CNTNAP3B

NM_001201380.3:p.G1195R

Associated Papers

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
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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."