EGF c.246T>G ;(p.H82Q)

Variant ID: 4-110862220-T-G

NM_001963.4(EGF):c.246T>G;(p.H82Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 246T>G
PubMed Link: 24748328
Variant Present in the following documents:
  • Main text
  • 13353_2014_Article_212.pdf
View BVdb publication page