Varaico: Literature-Extracted Genetic Variants

Gene:APPL1
Variant:p.I642M
Back to variants list

APPL1

NM_012096.3:p.I642M

Associated Papers

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Huerta-Chagoya A et al.

Nature Genetics, 2024

39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8

Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients.

Shi P et al.

World Journal of Diabetes, 2024

Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.

Yu H et al.

Journal of Molecular Cell Biology, 2023

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.

Schroeder P et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808701 (PubMed )
Supplement: media-2.xlsx › T6

Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.

Younis H et al.

Journal of Personalized Medicine, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."