Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.G1158R
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COL4A2

NM_001846.4:p.G1158R

Associated Papers

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.

Muhammad A et al.

Clinical Genetics, 2026

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

Identification of a novel intronic variant in COL4A2 gene associated with fetal severe cerebral encephalomalacia and subdural hemorrhage.

Sun RY et al.

Bmc Medical Genomics, 2024

Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy.

Bakhtiari S et al.

Neurology. Genetics, 2021

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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."