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NF1 c.3422T>G ;(p.L1141R)
Variant ID: 17-29559825-T-G
NM_001042492.2(
NF1
):c.3422T>G;(p.L1141R)
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:
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Orphanet Journal Of Rare Diseases
Cui, Yazhou Y; Zhao, Heng H; Liu, Zhenxing Z; Liu, Chao C; Luan, Jing J; Zhou, Xiaoyan X; Han, Jinxiang J
Publication Date: 2012-08-22
Variant appearance in text: NF1: Leu1141Arg
PubMed Link:
22913777
Variant Present in the following documents:
Main text
1750-1172-7-55.pdf
View BVdb publication page