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Article

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.

Cold Spring Harbor molecular case studies - 1 Jun 2020

AbuBakr Fatima, Jeffries Lauren, Ji Weizhen, McGrath James M, Lakhani Saquib A

Abstract excerpt

The transforming growth factor-β-activated kinase 1 (TAK1) encoded by mitogen-activated protein kinase kinase kinase 7 (MAP3K7) is widely expressed and participates in multiple molecular and cellular processes, including growth, differentiation, inflammation, and apoptosis. Pathogenic variants in MAP3K7 have recently been associated with two disorders: cardiospondylocarpofacial syndrome (CSCFS) and...

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Identifiers

PMID: 32299812
DOI: 10.1101/mcs.a005207
PMCID: PMC7304360

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.PMID 32299812Read ↗

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