NEFH c.1575G>T ;(p.K525N)

Variant ID: 22-29885204-G-T

NM_021076.3(NEFH):c.1575G>T;(p.K525N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: NEFH: K525N
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.

Neurology. Genetics
Nel, Melissa M; Mahungu, Amokelani C AC; Monnakgotla, Nomakhosazana N; Botha, Gerrit R GR; Mulder, Nicola J NJ; Wu, Gang G; Rampersaud, Evadnie E; van Blitterswijk, Marka M; Wuu, Joanne J; Cooley, Anne A; Myers, Jason J; Rademakers, Rosa R; Taylor, J Paul JP; Benatar, Michael M; Heckmann, Jeannine M JM
Publication Date: 2022-02

Variant appearance in text: NEFH: K525N
PubMed Link: 35047667
Variant Present in the following documents:
  • NG2021017234.pdf
View BVdb publication page