FMR1 c.88_90delinsATG ;(p.V30M)

Variant ID: X-147003487-GTT-ATG

NM_002024.5(FMR1):c.88_90delinsATG;(p.V30M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Ataxin-2 gene: a powerful modulator of neurological disorders.

Current Opinion In Neurology
Laffita-Mesa, Jose Miguel JM; Paucar, Martin M; Svenningsson, Per P
Publication Date: 2021-08-01

Variant appearance in text: FMR1: Val30Met
PubMed Link: 34010218
Variant Present in the following documents:
  • Main text
  • coneu-34-578.pdf
View BVdb publication page



Recombinant adeno-associated virus vectors in the treatment of rare diseases.

Expert Opinion On Orphan Drugs
Hastie, Eric E; Samulski, R Jude RJ
Publication Date: 2015

Variant appearance in text: FMRP: V30M
PubMed Link: 27668135
Variant Present in the following documents:
  • Main text
View BVdb publication page