Varaico: Literature-Extracted Genetic Variants

Gene:MYH10
Variant:p.R280C
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MYH10

NM_001256012.3:p.R280C

Associated Papers

Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.

Velayutham D et al.

Cells, 2025

41294844 (PubMed )
Supplement: cells-14-01791-s001.zip › cells-3910392-supplementary › Table_S2.xlsx › Table_S3

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

Holtz AM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.

Fang X et al.

Journal of Cellular and Molecular Medicine, 2020

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

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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."