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TYR c.375T>A ;(p.D125E)
Variant ID: 11-88911496-T-A
NM_000372.4(
TYR
):c.375T>A;(p.D125E)
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:
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
Investigative Ophthalmology & Visual Science
Gargiulo, Annagiusi A; Testa, Francesco F; Rossi, Settimio S; Di Iorio, Valentina V; Fecarotta, Simona S; de Berardinis, Teresa T; Iovine, Antonello A; Magli, Adriano A; Signorini, Sabrina S; Fazzi, Elisa E; Galantuomo, Maria Silvana MS; Fossarello, Maurizio M; Montefusco, Sandro S; Ciccodicola, Alfredo A; Neri, Alberto A; Macaluso, Claudio C; Simonelli, Francesca F; Surace, Enrico Maria EM
Publication Date: 2011-03
Variant appearance in text: TYR: 375T>A
PubMed Link:
20861488
Variant Present in the following documents:
Main text
View BVdb publication page