NF1 c.2789_2791del ;(p.Y930_P931delinsS)

Variant ID: 17-29556422-TATC-T

NM_001042492.2(NF1):c.2789_2791del;(p.Y930_P931delinsS)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma.

Italian Journal Of Pediatrics
Vannelli, Silvia S; Buganza, Raffaele R; Runfola, Federica F; Mussinatto, Ilaria I; Andreacchio, Antonio A; de Sanctis, Luisa L
Publication Date: 2020-05-11

Variant appearance in text: NF1: 2789_2791delATC
PubMed Link: 32393377
Variant Present in the following documents:
  • Main text
  • 13052_2020_Article_813.pdf
View BVdb publication page