Publications:

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: USH2A: Leu3982Leu

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

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Widefield Swept Source OCTA in Retinitis Pigmentosa.

Diagnostics (Basel, Switzerland)

Mastropasqua, Rodolfo R; D'Aloisio, Rossella R; De Nicola, Chiara C; Ferro, Giada G; Senatore, Alfonso A; Libertini, Daniele D; Di Marzio, Guido G; Di Nicola, Marta M; Di Martino, Giuseppe G; Di Antonio, Luca L; Toto, Lisa L

Publication Date: 2020-01-19

Variant appearance in text: USH2A: L3982L

PubMed Link: 31963847

Variant Present in the following documents:

• Main text

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Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Orphanet Journal Of Rare Diseases

Garcia-Garcia, Gema G; Aparisi, Maria J MJ; Jaijo, Teresa T; Rodrigo, Regina R; Leon, Ana M AM; Avila-Fernandez, Almudena A; Blanco-Kelly, Fiona F; Bernal, Sara S; Navarro, Rafael R; Diaz-Llopis, Manuel M; Baiget, Montserrat M; Ayuso, Carmen C; Millan, Jose M JM; Aller, Elena E

Publication Date: 2011-10-17

Variant appearance in text: USH2A: L3982L

PubMed Link: 22004887

Variant Present in the following documents:

• 1750-1172-6-65.pdf

View BVdb publication page