Varaico: Literature-Extracted Genetic Variants

Gene:MAST1
Variant:p.E194del1
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MAST1

NM_014975.3:p.E194del1

Associated Papers

Microtubule-Associated Serine/Threonine (MAST) Kinases in Development and Disease.

Rumpf M et al.

International Journal of Molecular Sciences, 2023

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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