SLC45A2 c.377T>A ;(p.V126D)

Variant ID: 5-33984312-A-T

NM_016180.3(SLC45A2):c.377T>A;(p.V126D)

This variant was identified in 1 publication

View GRCh38 version.




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: MATP: V126D
PubMed Link: 20861488
Variant Present in the following documents:
  • Main text
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