Varaico: Literature-Extracted Genetic Variants

Gene:FAT4
Variant:p.E2375K
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FAT4

NM_001291303.3:p.E2375K

Associated Papers

Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow.

Betterman KL et al.

The Journal of Clinical Investigation, 2020

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.

Ivanovski I et al.

American Journal of Medical Genetics. Part A, 2018

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.

van der Ven AT et al.

Molecular Syndromology, 2017

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Alders M et al.

Human Genetics, 2014

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

Cappello S et al.

Nature Genetics, 2013

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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."