Varaico: Literature-Extracted Genetic Variants

Gene:MYT1L
Variant:p.R18*
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MYT1L

NM_001303052.2:p.R18*

Associated Papers

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

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

Coursimault J et al.

Human Genetics, 2022

Genomic Profiling of Biliary Tract Cancer Cell Lines Reveals Molecular Subtypes and Actionable Drug Targets.

Lau DK et al.

Iscience, 2019

31731200 (PubMed )
Supplement: mmc2.xlsx › Sequencing.data
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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."