Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K7
Variant:p.G48E
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MAP3K7

NM_145331.3:p.G48E

Associated Papers

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

Yang Q et al.

Frontiers in Pediatrics, 2025

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

van Woerden GM et al.

Human Mutation, 2022

Increased nuchal translucency in fetus with neonatal dilated cardiomyopathy and MAP3K7 genetic variant.

Perez W et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022

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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."