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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLP1

Variant:p.G246insFs

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PLP1

NM_000533.5:p.G246insFs

hg38:chrX:103789370 T>TG

Associated Papers

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.

Barbaro M et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

17504899 (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."