Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.
Grant AD et al.
Scientific Reports, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report.
Taghizadeh E et al.
Iranian Journal of Public Health, 2018
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.
Park HJ et al.
Yonsei Medical Journal, 2016
Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A.
Luo SS et al.
Muscle & Nerve, 2012
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.
Zhang G et al.
Human Genomics, 2011
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
Bennett RR et al.
Bmc Genetics, 2009
Screening of the CAPN3 gene in patients with possible LGMD2A.
Krahn M et al.
Clinical Genetics, 2006
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M et al.
Human Mutation, 2004
Clinical variability in calpainopathy: what makes the difference?
de Paula F et al.
European Journal of Human Genetics : Ejhg, 2002
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999