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PAH c.1056del ;(p.E353Nfs*47)
Variant ID: 12-103238123-CA-C
NM_000277.1(
PAH
):c.1056del;(p.E353Nfs*47)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21
Variant appearance in text: PAH: 1056delT
PubMed Link:
35193651
Variant Present in the following documents:
13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page