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FLNB c.475A>C ;(p.T159P)
Variant ID: 3-58062955-A-C
NM_001457.3(
FLNB
):c.475A>C;(p.T159P)
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:
Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.
Diagnostic Pathology
Liu, Yan Y; Wang, Li L; Yang, Yi-Ke YK; Liang, Ying Y; Zhang, Tie-Juan TJ; Liang, Na N; Yang, Li-Man LM; Li, Si-Jing SJ; Shan, Dan D; Wu, Qing-Qing QQ
Publication Date: 2019-07-13
Variant appearance in text: FLNB: 475A>C; Thr159Pro
PubMed Link:
31299979
Variant Present in the following documents:
13000_2019_Article_853.pdf
View BVdb publication page