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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NODAL

Variant:p.P119L

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NODAL

NM_018055.5:p.P119L

hg38:chr10:70435821 G>A

Associated Papers

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Dubourg C et al.

Human Mutation, 2016

27363716 (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."