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PAH c.1199+13_1199+19del
Variant ID: 12-103237405-CACCTTTG-C
NM_000277.1(
PAH
):c.1199+13_1199+19del
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:
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
Plos Genetics
Martínez-Pizarro, Ainhoa A; Dembic, Maja M; Pérez, Belén B; Andresen, Brage S BS; Desviat, Lourdes R LR
Publication Date: 2018-04
Variant appearance in text: PAH: 1199+13_1199+19del
PubMed Link:
29684050
Variant Present in the following documents:
Main text
pgen.1007360.pdf
View BVdb publication page