TG c.2896_2911del ;(p.R966Afs*32)

Variant ID: 8-133906067-TGAGGAATGAGGACCTC-T

NM_003235.4(TG):c.2896_2911del;(p.R966Afs*32)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.

Bmc Pediatrics
Beyzaei, Zahra Z; Ezgu, Fatih F; Geramizadeh, Bita B; Alborzi, Alireza A; Shojazadeh, Alireza A
Publication Date: 2021-04-15

Variant appearance in text: TG: 2896_2911del
PubMed Link: 33858366
Variant Present in the following documents:
  • Main text
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