Publications:

Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.

Scientific Reports

Patel, Dipali D; Kopec, Jolanta J; Fitzpatrick, Fiona F; McCorvie, Thomas J TJ; Yue, Wyatt W WW

Publication Date: 2016-04-06

Variant appearance in text: PAH: E76A

PubMed Link: 27049649

Variant Present in the following documents:

• Main text
• srep23748.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: E76A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: E76A

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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