COL4A5 c.2056_2063del ;(p.P686Tfs*9)

Variant ID: X-107845129-TCCAGGGCA-T

NM_033380.2(COL4A5):c.2056_2063del;(p.P686Tfs*9)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Massella, Laura L; Gangemi, Concetta C; Giannakakis, Kostas K; Crisafi, Antonella A; Faraggiana, Tullio T; Fallerini, Chiara C; Renieri, Alessandra A; Muda, Andrea Onetti AO; Emma, Francesco F
Publication Date: 2013-05

Variant appearance in text: COL4A5: Pro686fsX735
PubMed Link: 23371956
Variant Present in the following documents:
  • Main text
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