TTN c.32554+5_32554+6del

Variant ID: 2-179549626-AAT-A

NM_001267550.1(TTN):c.32554+5_32554+6del

This variant was identified in 1 publication

View GRCh38 version.




Publications:


FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.

Molecular Genetics & Genomic Medicine
Badura-Stronka, Magdalena M; Śmigiel, Robert R; Rutkowska, Karolina K; Szymańska, Krystyna K; Hirschfeld, Adam Sebastian AS; Monkiewicz, Michał M; Kosińska, Joanna J; Wolańska, Ewelina E; Rydzanicz, Małgorzata M; Latos-Bieleńska, Anna A; Płoski, Rafał R
Publication Date: 2022-04

Variant appearance in text: TTN: 32554+5_32554+6del
PubMed Link: 35255187
Variant Present in the following documents:
  • MGG3-10-e1899-s002.xlsx, sheet 2
View BVdb publication page