Varaico: Literature-Extracted Genetic Variants

Gene:ACACA
Variant:p.R13Splc
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ACACA

NM_198834.3:p.R13Splc

Associated Papers

Ornithine capture by a translating ribosome controls bacterial polyamine synthesis.

Herrero Del Valle A et al.

Nature Microbiology, 2020

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

Faraon R et al.

Bmc Hematology, 2019

The Role of Arg13 in Protein Phosphatase M tPphA from Thermosynechococcus elongatus.

Su J et al.

Enzyme Research, 2012

22720135 (PubMed )
Supplement: 272706.f1.pdf

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

Harville HM et al.

Journal of Medical Genetics, 2010

Diversity of sequence haplotypes associated with beta-thalassaemia mutations in Algeria: implications for their origin.

Perrin P et al.

Gene, 1998

Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report.

Shoujaa A et al.

Hemoglobin, 0

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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."