Varaico: Literature-Extracted Genetic Variants

Gene:RAB40AL
Variant:p.A217P
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RAB40AL

NM_001031834.1:p.A217P

Associated Papers

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.

Bedoyan JK et al.

Journal of Medical Genetics, 2012

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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."