Publications:

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: PAH: 844G>A; rs199475582

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

Orphanet Journal Of Rare Diseases

Jeannesson-Thivisol, Elise E; Feillet, François F; Chéry, Céline C; Perrin, Pascal P; Battaglia-Hsu, Shyue-Fang SF; Herbeth, Bernard B; Cano, Aline A; Barth, Magalie M; Fouilhoux, Alain A; Mention, Karine K; Labarthe, François F; Arnoux, Jean-Baptiste JB; Maillot, François F; Lenaerts, Catherine C; Dumesnil, Cécile C; Wagner, Kathy K; Terral, Daniel D; Broué, Pierre P; de Parscau, Loïc L; Gay, Claire C; Kuster, Alice A; Bédu, Antoine A; Besson, Gérard G; Lamireau, Delphine D; Odent, Sylvie S; Masurel, Alice A; Guéant, Jean-Louis JL; Namour, Fares F

Publication Date: 2015-12-15

Variant appearance in text: PAH: Asp282Asn

PubMed Link: 26666653

Variant Present in the following documents:

• Main text
• 13023_2015_Article_375.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PAH: D282N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Jimd Reports

Sarkissian, Christineh N CN; Gamez, Alejandra A; Scott, Patrick P; Dauvillier, Jerome J; Dorenbaum, Alejandro A; Scriver, Charles R CR; Stevens, Raymond C RC

Publication Date: 2012

Variant appearance in text: PAH: D282N

PubMed Link: 23430918

Variant Present in the following documents:

• Main text

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Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.

Plos One

Poulsen, Lena L; Søe, Martin Jensen MJ; Møller, Lisbeth Birk LB; Dufva, Martin M

Publication Date: 2011-03-22

Variant appearance in text: PAH: 844G>A; D282N

PubMed Link: 21445337

Variant Present in the following documents:

• Main text
• pone.0014777.pdf

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics

Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A

Publication Date: 2007-11

Variant appearance in text: PAH: D282N

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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