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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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