Publications:

Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer

Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-05

Variant appearance in text: TYR: 1122G>C

PubMed Link: 31382929

Variant Present in the following documents:

• 12885_2019_5984_MOESM1_ESM.pdf

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Delineating the genetic heterogeneity of OCA in Hungarian patients.

European Journal Of Medical Research

Fábos, Beáta B; Farkas, Katalin K; Tóth, Lola L; Sulák, Adrienn A; Tripolszki, Kornélia K; Tihanyi, Mariann M; Németh, Réka R; Vas, Krisztina K; Csoma, Zsanett Z; Kemény, Lajos L; Széll, Márta M; Nagy, Nikoletta N

Publication Date: 2017-06-19

Variant appearance in text: TYR: 1122G>C

PubMed Link: 28629449

Variant Present in the following documents:

• Main text
• 40001_2017_Article_262.pdf

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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: 1122G>C

PubMed Link: 20861488

Variant Present in the following documents:

• Main text

View BVdb publication page