Varaico: Literature-Extracted Genetic Variants

Gene:ATG7
Variant:p.L512P
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ATG7

NM_001349232.2:p.L512P

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

Autophagy deficiency in neurodevelopmental disorders.

Deng Z et al.

Cell & Bioscience, 2021

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Collier JJ et al.

The New England Journal of Medicine, 2021

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