Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G1233E
Back to variants list

COL4A1

NM_001845.6:p.G1233E

Associated Papers

Migraine in monogenic disorders: Shedding light on new therapeutic targets.

Mascarella D et al.

Cephalalgia : an International Journal of Headache, 2025

41147997 (PubMed )
Supplement: sj-docx-1-cep-10.1177_03331024251389241.docx

A Novel, Possibly Pathogenic, COL4A1 Gene Variant (c.3698G>A) in a Family With Childhood Epilepsy and Leukoencephalopathy.

Gaini R et al.

Cureus, 2023

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."