Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.E1180_Q1181delins
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MYH11

NM_001040113.2:p.E1180_Q1181delins

Associated Papers

Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.

Wei X et al.

Bmc Medical Genomics, 2024

38773466 (PubMed )
Supplement: 12920_2024_1908_MOESM2_ESM.xlsx › MYH11_hg19

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6

Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.

Wang Q et al.

Journal of Human Genetics, 2019

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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."