Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.L45V
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CIITA

NM_000246.4:p.L45V

Associated Papers

Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.

Ibrahim TAM et al.

Journal of Diabetes Research, 2025

41376825 (PubMed )
Supplement: 3346256.f1.pdf

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.

Zhao M et al.

Frontiers in Genetics, 2023

37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Genomic profiling of colorectal cancer with isolated lung metastasis.

Zhang N et al.

Cancer Cell International, 2020

32624706 (PubMed )
Supplement: 12935_2020_1373_MOESM3_ESM.xlsx › Sheet1

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

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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."