HSF2 c.529_530delinsGC ;(p.K177A)

Variant ID: 6-122737439-AA-GC

NM_004506.3(HSF2):c.529_530delinsGC;(p.K177A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.

Nature Communications
de Thonel, Aurélie A; Ahlskog, Johanna K JK; Daupin, Kevin K; Dubreuil, Véronique V; Berthelet, Jérémy J; Chaput, Carole C; Pires, Geoffrey G; Leonetti, Camille C; Abane, Ryma R; Barris, Lluís Cordón LC; Leray, Isabelle I; Aalto, Anna L AL; Naceri, Sarah S; Cordonnier, Marine M; Benasolo, Carène C; Sanial, Matthieu M; Duchateau, Agathe A; Vihervaara, Anniina A; Puustinen, Mikael C MC; Miozzo, Federico F; Fergelot, Patricia P; Lebigot, Élise É; Verloes, Alain A; Gressens, Pierre P; Lacombe, Didier D; Gobbo, Jessica J; Garrido, Carmen C; Westerheide, Sandy D SD; David, Laurent L; Petitjean, Michel M; Taboureau, Olivier O; Rodrigues-Lima, Fernando F; Passemard, Sandrine S; Sabéran-Djoneidi, Délara D; Nguyen, Laurent L; Lancaster, Madeline M; Sistonen, Lea L; Mezger, Valérie V
Publication Date: 2022-11-16

Variant appearance in text: HSF2: K177A
PubMed Link: 36385105
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_34476.pdf
  • 41467_2022_34476_MOESM1_ESM.pdf
View BVdb publication page