Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K7
Variant:p.V42del1
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MAP3K7

NM_145331.3:p.V42del1

Associated Papers

Unraveling the Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? Case Presentation.

Kizilcan Cetin S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.

Minatogawa M et al.

American Journal of Medical Genetics. Part A, 2022

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

AbuBakr F et al.

Cold Spring Harbor Molecular Case Studies, 2020

Neonatal dilated cardiomyopathy and cardiospondylocarpofacial syndrome linked to a novel MAP3K7 gene mutation.

Das BB et al.

Annals of Pediatric Cardiology, 0

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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."