DNAH11 c.3898C>T ;(p.Q1300*)

Variant ID: 7-21654777-C-T

NM_001277115.1(DNAH11):c.3898C>T;(p.Q1300*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

Journal Of Clinical Medicine
Baz-Redón, Noelia N; Rovira-Amigo, Sandra S; Fernández-Cancio, Mónica M; Castillo-Corullón, Silvia S; Cols, Maria M; Caballero-Rabasco, M Araceli MA; Asensio, Óscar Ó; Martín de Vicente, Carlos C; Martínez-Colls, Maria Del Mar MDM; Torrent-Vernetta, Alba A; de Mir-Messa, Inés I; Gartner, Silvia S; Iglesias-Serrano, Ignacio I; Díez-Izquierdo, Ana A; Polverino, Eva E; Amengual-Pieras, Esther E; Amaro-Rodríguez, Rosanel R; Vendrell, Montserrat M; Mumany, Marta M; Pascual-Sánchez, María Teresa MT; Pérez-Dueñas, Belén B; Reula, Ana A; Escribano, Amparo A; Dasí, Francisco F; Armengot-Carceller, Miguel M; Garrido-Pontnou, Marta M; Camats-Tarruella, Núria N; Moreno-Galdó, Antonio A
Publication Date: 2020-11-09

Variant appearance in text: DNAH11: 3898C>T; Gln1300Ter
PubMed Link: 33182294
Variant Present in the following documents:
  • jcm-09-03603-s001.pdf
View BVdb publication page