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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR5A1

Variant:p.K372delFs

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NR5A1

NM_004959.5:p.K372delFs

hg38:chr9:124491103 CTT>C

Associated Papers

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.

Eggers S et al.

European Journal of Human Genetics : Ejhg, 2015

25099250 (PubMed )

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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."