DMD c.8669-75C>G

Variant ID: X-31496566-G-C

NM_004006.2(DMD):c.8669-75C>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.

Diagnostics (Basel, Switzerland)
De Palma, Fatima Domenica Elisa FDE; Nunziato, Marcella M; D'Argenio, Valeria V; Savarese, Maria M; Esposito, Gabriella G; Salvatore, Francesco F
Publication Date: 2021-10-15

Variant appearance in text: DMD: 8669-75C>G; rs17338583
PubMed Link: 34679607
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01910.pdf
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: DMD: 8669-75C>G; rs17338583
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page