Varaico: Literature-Extracted Genetic Variants

Gene:SOX17
Variant:p.G178C
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SOX17

NM_022454.4:p.G178C

Associated Papers

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Gimelli S et al.

Human Mutation, 2010

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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."