Varaico: Literature-Extracted Genetic Variants

Gene:FAT4
Variant:p.Q3093H
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FAT4

NM_001291303.3:p.Q3093H

Associated Papers

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

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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."