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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA6

Variant:p.D252delFs

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PNPLA6

NM_001166114.2:p.D252delFs

hg38:chr19:7540670 AC>A

Associated Papers

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

36138264 (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."