Associated Papers
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
Zhytnik L et al.
Human Genomics, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.
Maasalu K et al.
Human Genomics, 2015
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