NF1 c.95_96insGTAT ;(p.K33Yfs*6)

Variant ID: 17-29483035-C-CGTAT

NM_001042492.2(NF1):c.95_96insGTAT;(p.K33Yfs*6)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Orphanet Journal Of Rare Diseases
Kang, Eungu E; Kim, Yoon-Myung YM; Choi, Yunha Y; Lee, Yena Y; Kim, JunYoung J; Choi, In Hee IH; Yoo, Han-Wook HW; Yoon, Hee Mang HM; Lee, Beom Hee BH
Publication Date: 2022-01-29

Variant appearance in text: NF1: 95_96insGTAT; K33fs
PubMed Link: 35093157
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2174.pdf
View BVdb publication page



Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Orphanet Journal Of Rare Diseases
Kang, Eungu E; Kim, Yoon-Myung YM; Choi, Yunha Y; Lee, Yena Y; Kim, JunYoung J; Choi, In Hee IH; Yoo, Han-Wook HW; Yoon, Hee Mang HM; Lee, Beom Hee BH
Publication Date: 2022-01-29

Variant appearance in text: NF1: 95_96insGTAT; K33fs
PubMed Link: 35093157
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2174.pdf
View BVdb publication page