Varaico: Literature-Extracted Genetic Variants

Gene:MAST1
Variant:p.P500L
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MAST1

NM_014975.3:p.P500L

Associated Papers

MAST Kinases' Function and Regulation: Insights from Structural Modeling and Disease Mutations.

Lemke MC et al.

Biomedicines, 2025

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

Rumpf M et al.

International Journal of Molecular Sciences, 2023

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1

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

Insights From Genetic Studies of Cerebral Palsy.

Lewis SA et al.

Frontiers in Neurology, 2020

33551980 (PubMed )
Supplement: Table_1.XLSX › variants

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

van Eyk CL et al.

Npj Genomic Medicine, 2019

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

Tripathy R et al.

Neuron, 2018

The emerging genetic landscape of cerebral palsy.

van Eyk CL et al.

Handbook of Clinical Neurology, 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."