Varaico: Literature-Extracted Genetic Variants

Gene:MAST1
Variant:p.S93L
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MAST1

NM_014975.3:p.S93L

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

Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.

Ben-Mahmoud A et al.

Journal of Molecular Neuroscience : Mn, 2020

Genomic diagnosis for children with intellectual disability and/or developmental delay.

Bowling KM et al.

Genome Medicine, 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."