Varaico: Literature-Extracted Genetic Variants

Gene:AP2M1
Variant:p.R162Q
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AP2M1

NM_004068.4:p.R162Q

Associated Papers

Comparative genomic and clinicopathological analysis uncovers contrasting molecular profiles of canine and human thyroid carcinomas.

Das S et al.

Communications Biology, 2025

41353477 (PubMed )
Supplement: 42003_2025_9225_MOESM3_ESM.xlsx › Supplementary_Data_7

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

Franco-Jarava C et al.

Journal of Clinical Immunology, 2017

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