Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P173T
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PAH

NM_000277.3:p.P173T

Associated Papers

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

Molecular characterization of phenylketonuria in Japanese patients.

Okano Y et al.

Human Genetics, 1998

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Nowacki PM et al.

Nucleic Acids Research, 1998

Science, medicine and phenylketonuria.

Scriver CR

Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994

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