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PAH c.441+1G>C
Variant ID: 12-103271239-C-G
NM_000277.1(
PAH
):c.441+1G>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:
The status of PAH gene-VNTR alleles and mini-haplotypes associations with PAH gene mutations in Iranian Kurdish PKU patients.
Medical Journal Of The Islamic Republic Of Iran
Alibakhshi, Reza R; Moradi, Keivan K; Ghadiri, Keyghobad K
Publication Date: 2019
Variant appearance in text: PAH: 441+1G>C
PubMed Link:
31696082
Variant Present in the following documents:
Main text
mjiri-33-88.pdf
View BVdb publication page