PAH c.1199+15A>C

Variant ID: 12-103237409-T-G

NM_000277.1(PAH):c.1199+15A>C

This variant was identified in 1 publication

View GRCh38 version.




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+15A>C
PubMed Link: 29684050
Variant Present in the following documents:
  • Main text
  • pgen.1007360.pdf
View BVdb publication page