Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2B
Variant:p.K484E
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ACSM2B

NM_001105069.2:p.K484E

Associated Papers

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Belkadi A et al.

Cell Genomics, 2023

36777185 (PubMed )
Supplement: mmc6.xlsx › Table_S5

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

Single-cell sequencing analysis characterizes common and cell-lineage-specific mutations in a muscle-invasive bladder cancer.

Li Y et al.

Gigascience, 2012

23587365 (PubMed )
Supplement: 2047-217X-1-12-S5.xls › Table_S2B
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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."