Publications:

Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.

Molecular Vision

Murro, Vittoria V; Lippera, Myrta M; Mucciolo, Dario Pasquale DP; Canu, Letizia L; Ercolino, Tonino T; De Filpo, Giuseppina G; Giorgio, Dario D; Traficante, Giovanna G; Sodi, Andrea A; Virgili, Gianni G; Giansanti, Fabrizio F

Publication Date: 2021

Variant appearance in text: F2: 575C>T

PubMed Link: 34566400

Variant Present in the following documents:

• Main text
• mv-v27-542.pdf

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Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.

Acta Ophthalmologica

Gao, Feng-Juan FJ; Dong, Jian-Hong JH; Wang, Dan-Dan DD; Chen, Fang F; Hu, Fang-Yuan FY; Chang, Qing Q; Xu, Ping P; Liu, Wei W; Li, Jian-Kang JK; Huang, Ying Y; Wu, Ji-Hong JH; Xu, Ge-Zhi GZ

Publication Date: 2021-06

Variant appearance in text: F2: 575C>T

PubMed Link: 33124204

Variant Present in the following documents:

• Main text

View BVdb publication page