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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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