PAH c.1107G>A ;(p.L369=)

Variant ID: 12-103237516-C-T

NM_000277.1(PAH):c.1107G>A;(p.L369=)

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:

Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria.

Frontiers In Pediatrics
Leuzzi, Vincenzo V; Mannarelli, Daniela D; Manti, Filippo F; Pauletti, Caterina C; Locuratolo, Nicoletta N; Carducci, Carla C; Carducci, Claudia C; Vanacore, Nicola N; Fattapposta, Francesco F
Publication Date: 2014

Variant appearance in text: PAH: Leu369Leu
PubMed Link: 25003100
Variant Present in the following documents:
  • Main text
  • fped-02-00057.pdf
View BVdb publication page