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FLNB c.2053_2055del ;(p.Q685del)
Variant ID: 3-58094296-TCAG-T
NM_001457.3(
FLNB
):c.2053_2055del;(p.Q685del)
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:
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
Bmc Medical Genetics
Girisha, Katta Mohan KM; Bidchol, Abdul Mueed AM; Graul-Neumann, Luitgard L; Gupta, Ashish A; Hehr, Ute U; Lessel, Davor D; Nader, Sean S; Shah, Hitesh H; Wickert, Julia J; Kutsche, Kerstin K
Publication Date: 2016-04-06
Variant appearance in text: FLNB: Gln685del
PubMed Link:
27048506
Variant Present in the following documents:
Main text
12881_2016_Article_290.pdf
View BVdb publication page