Varaico: Literature-Extracted Genetic Variants

Gene:ATG7
Variant:p.R659*
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ATG7

NM_001349232.2:p.R659*

Associated Papers

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

Wong K et al.

Nature Communications, 2025

40389436 (PubMed )
Supplement: 41467_2025_59871_MOESM4_ESM.xlsx › Supp._Data_2b_-_BCAC

Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62.

Greer SU et al.

Scientific Reports, 2022

Autophagy regulation by RNA alternative splicing and implications in human diseases.

González-Rodríguez P et al.

Nature Communications, 2022

A novel region within a conserved domain in ATG7 emerged in vertebrates.

Hjaltalin VJ et al.

Autophagy Reports, 2022

Autophagy deficiency in neurodevelopmental disorders.

Deng Z et al.

Cell & Bioscience, 2021

Emerging roles of ATG7 in human health and disease.

Collier JJ et al.

Embo Molecular Medicine, 2021

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Collier JJ et al.

The New England Journal of Medicine, 2021

Whole-exome sequencing analysis in twin sibling males with an anterior cruciate ligament rupture.

Caso E et al.

Injury, 2016

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
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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."