Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.P503fs
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COL4A1

NM_001845.6:p.P503fs

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

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Fehlings DL et al.

Nature Genetics, 2024

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