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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IDE

Variant:p.S216I

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IDE

NM_004969.4:p.S216I

hg38:chr10:92531762 C>A

Associated Papers

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

Greer SU et al.

Scientific Reports, 2022

35725745 (PubMed )

Supplement: 41598_2022_13569_MOESM1_ESM.xlsx › Table_S11

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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."