Varaico: Literature-Extracted Genetic Variants

Gene:MYT1L
Variant:p.S568Splc
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MYT1L

NM_015025.4:p.S568Splc

Associated Papers

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_MOESM10_ESM.xlsx › Supplementary_Data_8

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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