Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.S781L
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CIITA

NM_000246.4:p.S781L

Associated Papers

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

slan-defined subsets of CD16-positive monocytes: impact of granulomatous inflammation and M-CSF receptor mutation.

Hofer TP et al.

Blood, 2015

CIITA or RFX coding region loss of function mutations occur rarely in diffuse large B-cell lymphoma cases and cell lines with low levels of major histocompatibility complex class II expression.

Rimsza LM et al.

Haematologica, 2009

Defective class II transactivator expression in a B lymphoma cell line.

Prod'homme T et al.

Leukemia, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."