Varaico: Literature-Extracted Genetic Variants

Gene:FAT4
Variant:p.E3163*
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FAT4

NM_001291303.3:p.E3163*

Associated Papers

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."