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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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