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EGF c.83G>T ;(p.C28F)
Variant ID: 4-110834574-G-T
NM_001963.4(
EGF
):c.83G>T;(p.C28F)
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:
UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.
Bmc Pediatrics
Yang, Jing J; Zhang, Yu Y; Zhou, Jianhua J
Publication Date: 2019-05-08
Variant appearance in text: EGF: Cys28Phe
PubMed Link:
31068150
Variant Present in the following documents:
Main text
12887_2019_Article_1522.pdf
View BVdb publication page