Varaico: Literature-Extracted Genetic Variants

Gene:APH1B
Variant:p.K185fs
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APH1B

NM_031301.4:p.K185fs

Associated Papers

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Nicolas G et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2018

30114415 (PubMed )
Supplement: EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx › Table_S9_BACE1andgsec_NS_1_
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