Varaico: Literature-Extracted Genetic Variants

Gene:MYT1L
Variant:p.R75*
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MYT1L

NM_001303052.2:p.R75*

Associated Papers

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

Yip S et al.

Genes, 2023

38136944 (PubMed )
Supplement: genes-14-02122-s001.zip › Table_S1.xlsx › Phenotype_Comparisons

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Coursimault J et al.

Human Genetics, 2022

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM11_ESM.xlsx › Supplementary_Data_9

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

Windheuser IC et al.

American Journal of Medical Genetics. Part A, 2020

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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."