Varaico: Literature-Extracted Genetic Variants

Gene:C4A
Variant:p.H549P
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C4A

NM_007293.3:p.H549P

Associated Papers

Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.

Gueuning M et al.

Blood Advances, 2026

41213005 (PubMed )
Supplement: BLOODA_ADV-2025-017463-mmc2.xlsx › Table11

High-throughput complement component 4 genomic sequence analysis with C4Investigator.

Marin WM et al.

Biorxiv : the Preprint Server for Biology, 2023

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
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