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PAH c.52_53delinsGC ;(p.F18A)
Variant ID: 12-103310856-AA-GC
NM_000277.1(
PAH
):c.52_53delinsGC;(p.F18A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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Publications:
A polycyclic aromatic hydrocarbon diradical with pH-responsive magnetic properties.
Chemical Science
Fu, Xiangyu X; Han, Han H; Zhang, Di D; Yu, Han H; He, Qilin Q; Zhao, Dahui D
Publication Date: 2020-06-07
Variant appearance in text: PAH: F18A
PubMed Link:
32874500
Variant Present in the following documents:
Main text
View BVdb publication page
Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.
Molecular Genetics And Metabolism
Sarkissian, Christineh N CN; Kang, Tse Siang TS; Gámez, Alejandra A; Scriver, Charles R CR; Stevens, Raymond C RC
Publication Date: 2011-11
Variant appearance in text: PAH: F18A
PubMed Link:
21803624
Variant Present in the following documents:
Main text
View BVdb publication page
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
Journal Of Inherited Metabolic Disease
Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V
Publication Date: 2011-02
Variant appearance in text: PAH: F18A
PubMed Link:
20821054
Variant Present in the following documents:
10545_2011_Article_9371.pdf
View BVdb publication page
Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria.
Molecular Genetics And Metabolism
Kang, Tse Siang TS; Wang, Lin L; Sarkissian, Christineh N CN; Gámez, Alejandra A; Scriver, Charles R CR; Stevens, Raymond C RC
Publication Date: 2010-01
Variant appearance in text: PAH: F18A
PubMed Link:
19793667
Variant Present in the following documents:
Main text
View BVdb publication page