Varaico: Literature-Extracted Genetic Variants

Gene:APH1B
Variant:p.K185delFs
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APH1B

NM_031301.4:p.K185delFs

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

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Table_S1.xlsx › Data

A comprehensive analysis of germline predisposition to early-onset ovarian cancer.

Horackova K et al.

Scientific Reports, 2024

39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."