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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAP3K1

Variant:p.P278_F279Splc

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MAP3K1

NM_005921.2:p.P278_F279Splc

hg38:chr5:56859916 G>T

Associated Papers

Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.

Gomes NL et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

35134971 (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."