BLNK c.923T>C ;(p.I308T)

Variant ID: 10-97963824-A-G

NM_013314.3(BLNK):c.923T>C;(p.I308T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Frontiers In Immunology
Tabansky, Inna I; Tanaka, Akemi J AJ; Wang, Jiayao J; Zhang, Guanglan G; Dujmovic, Irena I; Mader, Simone S; Jeganathan, Venkatesh V; DeAngelis, Tracey T; Funaro, Michael M; Harel, Asaff A; Messina, Mark M; Shabbir, Maya M; Nursey, Vishaan V; DeGouvia, William W; Laurent, Micheline M; Blitz, Karen K; Jindra, Peter P; Gudesblatt, Mark M; , ; King, Alejandra A; Drulovic, Jelena J; Yunis, Edmond E; Brusic, Vladimir V; Shen, Yufeng Y; Keskin, Derin B DB; Najjar, Souhel S; Stern, Joel N H JNH
Publication Date: 2022

Variant appearance in text: BLNK: I308T
PubMed Link: 36268024
Variant Present in the following documents:
  • Table_1.xlsx, sheet 3
View BVdb publication page



Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine
Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M
Publication Date: 2018-04-09

Variant appearance in text: BLNK: I308T
PubMed Link: 29642553
Variant Present in the following documents:
  • Main text
  • jpm-08-00013.pdf
View BVdb publication page



Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Plos One
Moens, Lotte N LN; Falk-Sörqvist, Elin E; Asplund, A Charlotta AC; Bernatowska, Ewa E; Smith, C I Edvard CI; Nilsson, Mats M
Publication Date: 2014

Variant appearance in text: BLNK: I308T
PubMed Link: 25502423
Variant Present in the following documents:
  • Main text
  • pone.0114901.pdf
View BVdb publication page