Varaico: Literature-Extracted Genetic Variants

Gene:FASN
Variant:p.R477H
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FASN

NM_004104.5:p.R477H

Associated Papers

CACNA1D-Related Channelopathies: From Hypertension to Autism.

Ortner NJ

Handbook of Experimental Pharmacology, 2023

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.

Pinggera A et al.

Human Molecular Genetics, 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."