HP c.967_979del ;(p.T323Lfs*2)

Variant ID: 16-72094535-GACACCGAAGAGCC-G

NM_005143.3(HP):c.967_979del;(p.T323Lfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Oral microbiota in autoimmune polyendocrine syndrome type 1.

Journal Of Oral Microbiology
Bruserud, Øyvind Ø; Siddiqui, Huma H; Marthinussen, Mihaela Cuida MC; Chen, Tsute T; Jonsson, Roland R; Oftedal, Bergithe Eikeland BE; Olsen, Ingar I; Husebye, Eystein Sverre ES; Wolff, Anette Bøe AB
Publication Date: 2018

Variant appearance in text: HP: 967_979del
PubMed Link: 29503707
Variant Present in the following documents:
  • Main text
  • zjom-10-1442986.pdf
View BVdb publication page



Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1.

Frontiers In Immunology
Bruserud, Øyvind Ø; Bratland, Eirik E; Hellesen, Alexander A; Delaleu, Nicolas N; Reikvam, Håkon H; Oftedal, Bergithe E BE; Wolff, Anette S B ASB
Publication Date: 2017

Variant appearance in text: HP: 967_979del
PubMed Link: 28919897
Variant Present in the following documents:
  • Main text
View BVdb publication page