Varaico: Literature-Extracted Genetic Variants

Gene:MAPK8IP3
Variant:p.R327H
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MAPK8IP3

NM_001318852.2:p.R327H

Associated Papers

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

Rekerle L et al.

American Journal of Human Genetics, 2026

41443197 (PubMed )
Supplement: mmc1.pdf
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