Varaico: Literature-Extracted Genetic Variants

Gene:KIR2DL3
Variant:p.E295D
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KIR2DL3

NM_015868.3:p.E295D

Associated Papers

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Gogate A et al.

Npj Genomic Medicine, 2024

39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5

Whole Exome Sequencing of Intracranial Epidermoid Cysts Reveals Immune-Associated Mechanistic and Potential Targets.

Kondaboina S et al.

Cancers, 2024

Molecular underpinnings of dedifferentiation and aggressiveness in chromophobe renal cell carcinoma.

Kapur P et al.

Jci Insight, 2024

38775158 (PubMed )
Supplement: jciinsight-9-176743-s288.xlsx › Table_S5

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc3.xlsx › BrM47

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_

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Charif M et al.

Frontiers in Genetics, 2015

26539208 (PubMed )
Supplement: Table_1.XLSX › Feuil1
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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."