Associated Papers
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
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
Chow YP et al.
Orphanet Journal of Rare Diseases, 2017
28222800 (PubMed )
Supplement: 13023_2017_575_MOESM2_ESM.xlsx › Table_S1
[Correlation of the autophagosome gene ATG16L1 polymorphism and inflammatory bowel disease].
Zhi J et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2008
[Relationship of collagen type I alpha 1 and alpha 2 gene polymorphisms with bone mineral density].
Li DF et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2006
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
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