Associated Papers
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
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
37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia.
Wu R et al.
Frontiers in Neurology, 2023
Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.
Junkiert-Czarnecka A et al.
Current Issues in Molecular Biology, 2022
Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations.
Solomon-Degefa H et al.
The Journal of Biological Chemistry, 2020
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
Sun Y et al.
Journal of Neurology, 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
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
The role of mutations in COL6A3 in isolated dystonia.
Lohmann K et al.
Journal of Neurology, 2016
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.
Yonekawa T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
Collagen VI related muscle disorders.
Lampe AK et al.
Journal of Medical Genetics, 2005
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe AK et al.
Journal of Medical Genetics, 2005
[Joint hypermobility, skin hyper-elasticity, connective tissue fragility: classical symptoms of Ehlers-Danlos syndrome].
Häggblom L et al.
Lakartidningen, 1995
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