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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR5A1

Variant:p.Q299_N300insFs

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NR5A1

NM_004959.5:p.Q299_N300insFs

hg38:chr9:124493123 C>CA

Associated Papers

Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients.

Hussain S et al.

Andrologia, 2016

26260161 (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."