Publications:

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: P314S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

American Journal Of Human Genetics

Gersting, Søren W SW; Kemter, Kristina F KF; Staudigl, Michael M; Messing, Dunja D DD; Danecka, Marta K MK; Lagler, Florian B FB; Sommerhoff, Christian P CP; Roscher, Adelbert A AA; Muntau, Ania C AC

Publication Date: 2008-07

Variant appearance in text: PAH: P314S

PubMed Link: 18538294

Variant Present in the following documents:

• Main text

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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: P314S

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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