Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.A232V
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COL5A1

NM_000093.5:p.A232V

Associated Papers

Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).

Wilson GN et al.

Current Issues in Molecular Biology, 2024

38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants

Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.

Kiener S et al.

Genes, 2022

35627182 (PubMed )
Supplement: genes-13-00797-s001.zip › Table_S4_Private_Variants.xlsx › priv.het.prot.chang.var._case_1

Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.

Chen ZR et al.

Journal of Thoracic Disease, 2021

Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.

McElroy A et al.

Journal of Veterinary Internal Medicine, 0

37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2A-ClinVar_COL5A1
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