Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › IPK1_het
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
A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia.
Wu R et al.
Frontiers in Neurology, 2023
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
COL6A3 polymorphisms were associated with lung cancer risk in a Chinese population.
Duan Y et al.
Respiratory Research, 2019
The role of mutations in COL6A3 in isolated dystonia.
Lohmann K et al.
Journal of Neurology, 2016
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
Domingo A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Zech M et al.
American Journal of Human Genetics, 2015
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
Jimenez-Mallebrera C et al.
Neuromuscular Disorders : Nmd, 2006
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