Varaico: Literature-Extracted Genetic Variants

Gene:MAST1
Variant:p.F580_V582del3
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MAST1

NM_014975.3:p.F580_V582del3

Associated Papers

MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.

Rodríguez-García ME et al.

American Journal of Medical Genetics. Part A, 2020

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Tripathy R et al.

Neuron, 2018

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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."