Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2A
Variant:p.R115*
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ACSM2A

NM_001308172.2:p.R115*

Associated Papers

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Lopes-Marques M et al.

Human Genetics, 2024

39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1

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

Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.

Chu G et al.

Cancer Medicine, 2019

Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B.

van der Sluis R

Molecular Genetics and Genomics : Mgg, 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."