Varaico: Literature-Extracted Genetic Variants

Gene:ABCC3
Variant:p.R1348C
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ABCC3

NM_003786.4:p.R1348C

Associated Papers

Pharmacogenomics in Orofacial Clefts Care: Insights from Whole-Genome Sequencing of Case-Parents Trios.

Poku-Adusei E et al.

Journal of Personalized Medicine, 2025

41149818 (PubMed )
Supplement: jpm-15-00456-s001.zip › jpm-3794577-supplementary.pdf

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316

Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Kelly L et al.

Protein Science : a Publication of the Protein Society, 2010

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Isokpehi RD et al.

Bioinformatics and Biology Insights, 2010

20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys

Functional analysis of nonsynonymous single nucleotide polymorphism type ATP-binding cassette transmembrane transporter subfamily C member 3.

Kobayashi K et al.

Pharmacogenetics and Genomics, 2008

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

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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."