Varaico: Literature-Extracted Genetic Variants

Gene:ACOT11
Variant:p.R348W
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ACOT11

NM_147161.4:p.R348W

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_2

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.

Goh LL et al.

Bmc Medical Genomics, 2018

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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."