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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PROS1

Variant:p.P125L

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PROS1

NM_000313.4:p.P125L

hg38:chr3:93906116 G>A

Associated Papers

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.

Mitchell CL et al.

Molecular Genetics and Metabolism, 2002

12409269 (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."