Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.G1383R
Back to variants list

COL4A2

NM_001846.4:p.G1383R

Associated Papers

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Henry OJ et al.

Epilepsia, 2025

40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01

COL4A2 -Related Disorder Presenting in Adulthood With Rhabdomyolysis.

Olarewaju BA et al.

American Journal of Medical Genetics. Part A, 2025

Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.

Alshammari MJ et al.

Human Genetics, 2024

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."