Varaico: Literature-Extracted Genetic Variants

Gene:COL6A5
Variant:p.H805R
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COL6A5

NM_001278298.2:p.H805R

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C et al.

Human Molecular Genetics, 2018

29300972 (PubMed )
Supplement: supplementary_material_ddx435.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."