Publications:

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: 551G>A; Arg184His

PubMed Link: 31343788

Variant Present in the following documents:

• HUMU-40-2197.pdf

View BVdb publication page

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

Journal Of Applied Genetics

Jurkiewicz, Dorota D; Gliwicz, Dorota D; Ciara, Elżbieta E; Gerfen, Jennifer J; Pelc, Magdalena M; Piekutowska-Abramczuk, Dorota D; Kugaudo, Monika M; Chrzanowska, Krystyna K; Spinner, Nancy B NB; Krajewska-Walasek, Małgorzata M

Publication Date: 2014-08

Variant appearance in text: EGF: 551G>A; Arg184His

PubMed Link: 24748328

Variant Present in the following documents:

• Main text
• 13353_2014_Article_212.pdf

View BVdb publication page