NF1 c.405del ;(p.N136Ifs*29)

Variant ID: 17-29490318-CG-C

NM_001042492.2(NF1):c.405del;(p.N136Ifs*29)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.

Plos One
Kobus, Karolina K; Hartl, Daniela D; Ott, Claus Eric CE; Osswald, Monika M; Huebner, Angela A; von der Hagen, Maja M; Emmerich, Denise D; Kühnisch, Jirko J; Morreau, Hans H; Hes, Frederik J FJ; Mautner, Victor F VF; Harder, Anja A; Tinschert, Sigrid S; Mundlos, Stefan S; Kolanczyk, Mateusz M
Publication Date: 2015

Variant appearance in text: NF1: 405delG
PubMed Link: 25775093
Variant Present in the following documents:
  • Main text
  • pone.0119030.pdf
View BVdb publication page