Varaico: Literature-Extracted Genetic Variants

Gene:COL12A1
Variant:p.P2790L
Back to variants list

COL12A1

NM_004370.6:p.P2790L

Associated Papers

Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review.

Merlini L et al.

International Journal of Molecular Sciences, 2025

Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.

Padmanabha H et al.

Neurology India, 0

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."