Varaico: Literature-Extracted Genetic Variants

Gene:FAT4
Variant:p.G2340Splc
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FAT4

NM_001291303.3:p.G2340Splc

Associated Papers

Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report.

Rahmani N et al.

Asian Biomedicine : Research, Reviews and News, 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."