Varaico: Literature-Extracted Genetic Variants

Gene:ABCC9
Variant:p.L1068P
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ABCC9

NM_020297.4:p.L1068P

Associated Papers

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

Liu Y et al.

Frontiers in Genetics, 2021

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