Varaico: Literature-Extracted Genetic Variants

Gene:KIR2DL1
Variant:p.M65T
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KIR2DL1

NM_014218.3:p.M65T

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

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

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_

Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis.

Savola P et al.

Nature Communications, 2017

28635960 (PubMed )
Supplement: ncomms15869-s2.xlsx › list_of_variants

Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations.

Brown D et al.

Nature Communications, 2017

28429735 (PubMed )
Supplement: ncomms14944-s4.xlsx › Patient__6_91
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