FH c.630del ;(p.L211Yfs*45)

Variant ID: 1-241672011-GT-G

NM_000143.3(FH):c.630del;(p.L211Yfs*45)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

Orphanet Journal Of Rare Diseases
Martín-Hernández, Elena E; Aldámiz-Echevarría, Luis L; Castejón-Ponce, Esperanza E; Pedrón-Giner, Consuelo C; Couce, María Luz ML; Serrano-Nieto, Juliana J; Pintos-Morell, Guillem G; Bélanger-Quintana, Amaya A; Martínez-Pardo, Mercedes M; García-Silva, María Teresa MT; Quijada-Fraile, Pilar P; Vitoria-Miñana, Isidro I; Dalmau, Jaime J; Lama-More, Rosa A RA; Bueno-Delgado, María Amor MA; Del Toro-Riera, Mirella M; García-Jiménez, Inmaculada I; Sierra-Córcoles, Concepción C; Ruiz-Pons, Mónica M; Peña-Quintana, Luis J LJ; Vives-Piñera, Inmaculada I; Moráis, Ana A; Balmaseda-Serrano, Elena E; Meavilla, Silvia S; Sanjurjo-Crespo, Pablo P; Pérez-Cerdá, Celia C
Publication Date: 2014-11-30

Variant appearance in text: FH: 630delA
PubMed Link: 25433810
Variant Present in the following documents:
  • Main text
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