HR c.2503G>T ;(p.V835L)

Variant ID: 8-21978336-C-A

NM_005144.4(HR):c.2503G>T;(p.V835L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Blood
Martín Merinero, Hector H; Zhang, Yuzhou Y; Arjona, Emilia E; Del Angel, Guillermo G; Goodfellow, Renee R; Gomez-Rubio, Elena E; Ji, Rui-Ru RR; Michelena, Malkoa M; Smith, Richard J H RJH; Rodríguez de Córdoba, Santiago S
Publication Date: 2021-12-02

Variant appearance in text: HR: 2503G>T; V835L
PubMed Link: 34189567
Variant Present in the following documents:
  • Main text
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