F2 c.1125del ;(p.P376Lfs*4)

Variant ID: 11-46748382-CA-C

NM_000506.3(F2):c.1125del;(p.P376Lfs*4)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The natural history of infantile neuroaxonal dystrophy.

Orphanet Journal Of Rare Diseases
Altuame, Fadie D FD; Foskett, Gretchen G; Atwal, Paldeep S PS; Endemann, Sarah S; Midei, Mark M; Milner, Peter P; Salih, Mustafa A MA; Hamad, Muddathir M; Al-Muhaizea, Mohammad M; Hashem, Mais M; Alkuraya, Fowzan S FS
Publication Date: 2020-05-01

Variant appearance in text: F2: 1125delA
PubMed Link: 32357911
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1355.pdf
View BVdb publication page