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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPFIBP1

Variant:p.V749L

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PPFIBP1

NM_003622.4:p.V749L

hg38:chr12:27682701 G>C

Associated Papers

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.

Igarashi M et al.

Scientific Reports, 2020

33060765 (PubMed )

Supplement: 41598_2020_74405_MOESM1_ESM.pdf

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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."