Associated Papers
Clinical Phenotype Spectrum in Two Large Chinese Families With Rippling Muscle Disease Caused by CAV-3 c.80G>A.
Shen Y et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2023
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Caveolinopathy--new mutations and additional symptoms.
Aboumousa A et al.
Neuromuscular Disorders : Nmd, 2008
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