TG c.3127del ;(p.H1043Tfs*10)

Variant ID: 8-133910017-GC-G

NM_003235.4(TG):c.3127del;(p.H1043Tfs*10)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas
Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M
Publication Date: 2022-01-27

Variant appearance in text: TG: 3126delC
PubMed Link: 35086560
Variant Present in the following documents:
  • 41065_2022_Article_224.pdf
View BVdb publication page



Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas
Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M
Publication Date: 2022-01-27

Variant appearance in text: TG: 3126delC
PubMed Link: 35086560
Variant Present in the following documents:
  • 41065_2022_Article_224.pdf
View BVdb publication page