Varaico: Literature-Extracted Genetic Variants

Gene:MAP4K4
Variant:p.R497*
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MAP4K4

NM_001395002.1:p.R497*

Associated Papers

Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies.

Yoon JG et al.

Clinical Genetics, 2024

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Patterson V et al.

Science Advances, 2023

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Tran Mau-Them F et al.

Molecular Genetics & Genomic Medicine, 2021

34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
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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."