Associated Papers
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: Table2.XLSX › Sheet1
Towards Understanding the Catalytic Mechanism of Human Paraoxonase 1: Experimental and In Silico Mutagenesis Studies.
Tripathy RK et al.
Applied Biochemistry and Biotechnology, 2017
Germline mutations causing familial lung cancer.
Tomoshige K et al.
Journal of Human Genetics, 2015
Paraoxonase gene mutations in amyotrophic lateral sclerosis.
Ticozzi N et al.
Annals of Neurology, 2010
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