Varaico: Literature-Extracted Genetic Variants

Gene:KIR2DL1
Variant:p.D68H
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KIR2DL1

NM_014218.3:p.D68H

Associated Papers

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet

Divergent HLA variations and heterogeneous expression but recurrent HLA loss-of- heterozygosity and common HLA-B and TAP transcriptional silencing across advanced pediatric solid cancers.

Lim WC et al.

Frontiers in Immunology, 2023

38318504 (PubMed )
Supplement: Table_1.xlsx › Table_S11A

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_4_WGS_cell_
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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."