Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.D1380fs
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COL3A1

NM_000090.4:p.D1380fs

Associated Papers

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.

Bowen JM et al.

European Journal of Human Genetics : Ejhg, 2023

36977837 (PubMed )
Supplement: 41431_2023_1343_MOESM1_ESM.pdf
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