PAH c.441+2T>C

Variant ID: 12-103271238-A-G

NM_000277.1(PAH):c.441+2T>C

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:

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Scientific Reports
Chen, Ting T; Xu, Weize W; Wu, Dingwen D; Han, Jiamin J; Zhu, Ling L; Tong, Fan F; Yang, Rulai R; Zhao, Zhengyan Z; Jiang, Pingping P; Shu, Qiang Q
Publication Date: 2018-11-20

Variant appearance in text: PAH: 441+2T>C
PubMed Link: 30459323
Variant Present in the following documents:
  • 41598_2018_35373_MOESM1_ESM.pdf
View BVdb publication page