Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.R134H
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COL5A1

NM_000093.5:p.R134H

Associated Papers

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table9.XLSX › LUSC

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

Chen ZR et al.

Journal of Thoracic Disease, 2021

RBM10 Deficiency Is Associated With Increased Immune Activity in Lung Adenocarcinoma.

Liu B et al.

Frontiers in Oncology, 2021

34367963 (PubMed )
Supplement: Table_3.xlsx › Table_S3

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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