Article

Involvement of MAP3K7 in FMD2 and CSCF, delineation of genotype/phenotype correlations.

2021-11-20

Abstract excerpt

Mitogen-Activated Protein 3 Kinase 7 (MAP3K7, MIM 602614) encodes the ubiquitously expressed transforming growth factor β (TGF-β)–activated kinase 1 (TAK1), which plays a crucial role in many cellular processes. Variants in the MAP3K7 gene have been linked to 2 distinct disorders: frontometaphyseal dysplasia type 2 (FMD2, MIM #617137) and cardiospondylocarpofacial syndrome (CSCF, MIM #157800). The fact that differ...

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Literature Corpus work: 174484c8-3ce6-57d2-98c5-486c5bb2bc26
DOI: 10.22541/au.163741470.06165246/v1

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