Varaico: Literature-Extracted Genetic Variants

Gene:MYOD1
Variant:p.S63*
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MYOD1

NM_002478.5:p.S63*

Associated Papers

Clinicopathological Analysis of a European Cohort of MYOD1 Mutant Rhabdomyosarcomas in Children and Young Adults.

Chisholm JC et al.

Pediatric Blood & Cancer, 2025

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1

A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.

Latypova X et al.

Genes, 2021

A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy.

Shukla A et al.

Clinical Genetics, 2019

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Watson CM et al.

Journal of Medical Genetics, 2016

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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."