Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS5
Variant:p.R312L
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ADAMTS5

NM_007038.5:p.R312L

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

Targeted next-generation sequencing identified ADAMTS5 as novel genetic substrate in patients with bicuspid aortic valve.

Lin X et al.

International Journal of Cardiology, 2018

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