Varaico: Literature-Extracted Genetic Variants

Gene:SOX17
Variant:p.Q314Q
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SOX17

NM_022454.4:p.Q314Q

Associated Papers

The pathophysiological role of novel pulmonary arterial hypertension gene SOX17.

Wu Y et al.

The European Respiratory Journal, 2021

Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).

Combes P et al.

Annals of Human Genetics, 2012

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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."