PSEN1 c.887dup ;(p.N297Efs*20)

Variant ID: 14-73673111-G-GT

NM_000021.3(PSEN1):c.887dup;(p.N297Efs*20)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.

Orphanet Journal Of Rare Diseases
Rodríguez-Rubio, Enrique E; Gil-Peña, Helena H; Chocron, Sara S; Madariaga, Leire L; de la Cerda-Ojeda, Francisco F; Fernández-Fernández, Marta M; de Lucas-Collantes, Carmen C; Gil, Marta M; Luis-Yanes, María Isabel MI; Vergara, Inés I; González-Rodríguez, Juan David JD; Ferrando, Susana S; Antón-Gamero, Montserrat M; Carrasco Hidalgo-Barquero, Marta M; Fernández-Escribano, Angustias A; Fernández-Maseda, Mº Ángeles MÁ; Espinosa, Laura L; Oliet, Aniana A; Vicente, Antonio A; Ariceta, Gema G; Santos, Fernando F; ,
Publication Date: 2021-02-27

Variant appearance in text: PS1: 886insT
PubMed Link: 33639975
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_1729.pdf
View BVdb publication page