Varaico: Literature-Extracted Genetic Variants

Gene:SEC14L5
Variant:p.R282W
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SEC14L5

NM_014692.2:p.R282W

Associated Papers

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S16

Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity.

Xu J et al.

Cell Death & Disease, 2014

24603336 (PubMed )
Supplement: cddis201475x1.doc
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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."