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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP12A

Variant:p.D18V

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ATP12A

NM_001676.7:p.D18V

hg38:chr13:24681605 A>T

Associated Papers

TOLLIP acts as a cargo adaptor to promote lysosomal degradation of aberrant ER membrane proteins.

Hayashi Y et al.

The Embo Journal, 2023

37929762 (PubMed )

Supplement: EMBJ-42-e114272-s006.pdf

Role of lysosomes in physiological activities, diseases, and therapy.

Zhang Z et al.

Journal of Hematology & Oncology, 2021

33990205 (PubMed )

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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."