TG c.2872C>G ;(p.L958V)

Variant ID: 8-133906045-C-G

NM_003235.4(TG):c.2872C>G;(p.L958V)

This variant was identified in 2 publications

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: 2872C>G
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: 2872C>G
PubMed Link: 35086560
Variant Present in the following documents:
  • 41065_2022_Article_224.pdf
View BVdb publication page



Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)
Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB
Publication Date: 2017-07-05

Variant appearance in text: TG: Leu958Val
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page