Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G420R
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COL4A1

NM_001845.6:p.G420R

Associated Papers

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

Detection of brain somatic variation in epilepsy-associated developmental lesions.

Bedrosian TA et al.

Epilepsia, 2022

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

van Eyk CL et al.

Npj Genomic Medicine, 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."