Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.T225S
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EFHC1

NM_018100.4:p.T225S

Associated Papers

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Wade EM et al.

American Journal of Human Genetics, 2016

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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."