FLNB c.4717G>T ;(p.D1573Y)

Variant ID: 3-58121751-G-T

NM_001457.3(FLNB):c.4717G>T;(p.D1573Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.

Clinical Orthopaedics And Related Research
Quiggle, Ashley A; Charng, Wu-Lin WL; Antunes, Lilian L; Nikolov, Momchil M; Bledsoe, Xavier X; Hecht, Jacqueline T JT; Dobbs, Matthew B MB; Gurnett, Christina A CA
Publication Date: 2022-02-01

Variant appearance in text: FLNB: D1573Y
PubMed Link: 34491919
Variant Present in the following documents:
  • Main text
  • abjs-480-421.pdf
View BVdb publication page



The etiology of idiopathic congenital talipes equinovarus: a systematic review.

Journal Of Orthopaedic Surgery And Research
Pavone, Vito V; Chisari, Emanuele E; Vescio, Andrea A; Lucenti, Ludovico L; Sessa, Giuseppe G; Testa, Gianluca G
Publication Date: 2018-08-22

Variant appearance in text: FLNB: 4717G>T; D1573Y
PubMed Link: 30134936
Variant Present in the following documents:
  • Main text
  • 13018_2018_Article_913.pdf
View BVdb publication page