Associated Papers
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30531895 (PubMed )
Supplement: 41436_2018_375_MOESM1_ESM.xlsx › Table_S13
Caucasian-specific allele in non-synonymous single nucleotide polymorphisms of the gene encoding deoxyribonuclease I-like 3, potentially relevant to autoimmunity, produces an inactive enzyme.
Ueki M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
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