Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.R312L
Back to variants list

COL1A1

NM_000088.4:p.R312L

Associated Papers

Intersecting Pathologies: COL1A1-Related Syndrome in the Setting of Childhood-Onset Hypopituitarism: Case Report and Literature Review.

Pelineagră OE et al.

Diagnostics (basel, Switzerland), 2025

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.

Foy M et al.

Clinical Case Reports, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."