Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.A803V
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CIITA

NM_000246.4:p.A803V

Associated Papers

Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report.

Zhang Y et al.

Asian Pacific Journal of Allergy and Immunology, 2024

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

Lee NY et al.

Cancers, 2022

35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP
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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."