NF1 c.5812+332A>G

Variant ID: 17-29657848-A-G

NM_001042492.2(NF1):c.5812+332A>G

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Orphanet Journal Of Rare Diseases
Scocchia, Alicia A; Kangas-Kontio, Tiia T; Irving, Melita M; Hero, Matti M; Saarinen, Inka I; Pelttari, Liisa L; Gall, Kimberly K; Valo, Satu S; Huusko, Johanna M JM; Tallila, Jonna J; Sistonen, Johanna J; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Publication Date: 2021-10-09

Variant appearance in text: NF1: 5812+332A>G; rs863224491
PubMed Link: 34627339
Variant Present in the following documents:
  • 13023_2021_2025_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Orphanet Journal Of Rare Diseases
Scocchia, Alicia A; Kangas-Kontio, Tiia T; Irving, Melita M; Hero, Matti M; Saarinen, Inka I; Pelttari, Liisa L; Gall, Kimberly K; Valo, Satu S; Huusko, Johanna M JM; Tallila, Jonna J; Sistonen, Johanna J; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Publication Date: 2021-10-09

Variant appearance in text: NF1: 5812+332A>G; rs863224491
PubMed Link: 34627339
Variant Present in the following documents:
  • 13023_2021_2025_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page