Varaico: Literature-Extracted Genetic Variants

Gene:MYT1L
Variant:p.L520P
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MYT1L

NM_001303052.2:p.L520P

Associated Papers

Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant.

Yip S et al.

Genes, 2023

Nine newly identified individuals refine the phenotype associated with MYT1L mutations.

Windheuser IC et al.

American Journal of Medical Genetics. Part A, 2020

MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature.

Al Tuwaijri A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

Blanchet P et al.

Plos 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."