Publications:

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.

Npj Genomic Medicine

Reurink, Janine J; de Vrieze, Erik E; Li, Catherina H Z CHZ; van Berkel, Emma E; Broekman, Sanne S; Aben, Marco M; Peters, Theo T; Oostrik, Jaap J; Neveling, Kornelia K; Venselaar, Hanka H; Ramos, Mariana Guimarães MG; Gilissen, Christian C; Astuti, Galuh D N GDN; Galbany, Jordi Corominas JC; van Lith-Verhoeven, Janneke J C JJC; Ockeloen, Charlotte W CW; Haer-Wigman, Lonneke L; Hoyng, Carel B CB; Cremers, Frans P M FPM; Kremer, Hannie H; Roosing, Susanne S; van Wijk, Erwin E

Publication Date: 2022-06-07

Variant appearance in text: EGF: 2276G>T

PubMed Link: 35672333

Variant Present in the following documents:

• 41525_2022_Article_306.pdf

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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Human Mutation

Gilbert, Melissa A MA; Bauer, Robert C RC; Rajagopalan, Ramakrishnan R; Grochowski, Christopher M CM; Chao, Grace G; McEldrew, Deborah D; Nassur, James A JA; Rand, Elizabeth B EB; Krock, Bryan L BL; Kamath, Binita M BM; Krantz, Ian D ID; Piccoli, David A DA; Loomes, Kathleen M KM; Spinner, Nancy B NB

Publication Date: 2019-12

Variant appearance in text: EGF: 2276G>T

PubMed Link: 31343788

Variant Present in the following documents:

• HUMU-40-2197.pdf

View BVdb publication page