Varaico: Literature-Extracted Genetic Variants

Gene:CYP2S1
Variant:p.L230R
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CYP2S1

NM_030622.8:p.L230R

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Genetic polymorphisms of CYP2S1, CYP2J2 and CYP2R1 genes in three Chinese populations: Han, Tibetan and Uighur.

Kang X et al.

Pharmacogenomics, 2018

CYP2S1 gene polymorphisms in a Korean population.

Jang YJ et al.

Therapeutic Drug Monitoring, 2007

Three novel single nucleotide polymorphisms (SNPs) of CYP2S1 gene in Japanese individuals.

Hanzawa Y et al.

Drug Metabolism and Pharmacokinetics, 2007

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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."