Varaico: Literature-Extracted Genetic Variants

Gene:APEH
Variant:p.T541M
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APEH

NM_001640.4:p.T541M

Associated Papers

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

Cryo-EM structure of acylpeptide hydrolase reveals substrate selection by multimerization and a multi-state serine-protease triad.

Kiss-Szemán AJ et al.

Chemical Science, 2022

Acylpeptide hydrolase (APEH) sequence variants with potential impact on the metabolism of the antiepileptic drug valproic acid.

Tsortouktzidis D et al.

Metabolic Brain Disease, 2019

Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

Moon CM et al.

Inflammatory Bowel Diseases, 2018

29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5
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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."