Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.S554T
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PTCH1

NM_000264.5:p.S554T

Associated Papers

Combination of multiplex PCR and DHPLC-based strategy for CYP2D6 genotyping scheme in Thais.

Suwannasri P et al.

Clinical Biochemistry, 2011

Impaired expression of CYP2D6 in intermediate metabolizers carrying the *41 allele caused by the intronic SNP 2988G>A: evidence for modulation of splicing events.

Toscano C et al.

Pharmacogenetics and Genomics, 2006

A novel intronic mutation, 2988G>A, with high predictivity for impaired function of cytochrome P450 2D6 in white subjects.

Raimundo S et al.

Clinical Pharmacology and Therapeutics, 2004

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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."