CP c.516del ;(p.N173Ifs*3)

Variant ID: 3-148928045-TG-T

NM_000096.3(CP):c.516del;(p.N173Ifs*3)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

Journal Of The American Society Of Nephrology : Jasn
Philippe, Aurélie A; Nevo, Fabien F; Esquivel, Ernie L EL; Reklaityte, Dalia D; Gribouval, Olivier O; Tête, Marie-Josèphe MJ; Loirat, Chantal C; Dantal, Jacques J; Fischbach, Michel M; Pouteil-Noble, Claire C; Decramer, Stéphane S; Hoehne, Martin M; Benzing, Thomas T; Charbit, Marina M; Niaudet, Patrick P; Antignac, Corinne C
Publication Date: 2008-10

Variant appearance in text: CP: 516delC
PubMed Link: 18614772
Variant Present in the following documents:
  • Main text
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