FLNB c.4783G>T ;(p.G1595W)

Variant ID: 3-58121817-G-T

NM_001457.3(FLNB):c.4783G>T;(p.G1595W)

This variant was identified in 1 publication

View GRCh38 version.




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: Gly1595Trp
PubMed Link: 27048506
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_290.pdf
View BVdb publication page