Varaico: Literature-Extracted Genetic Variants

Gene:CX3CR1
Variant:p.V281I
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CX3CR1

NM_001337.4:p.V281I

Associated Papers

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Mutations in immunodeficiency-related genes may increase the risk of infection after CAR-T-cell therapy: a report of two cases.

Wang D et al.

Bmc Infectious Diseases, 2023

T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Wang J et al.

Frontiers in Immunology, 2022

An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients.

Li J et al.

Iscience, 2021

34746695 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.

Charfeddine C et al.

Plos One, 2021

34669720 (PubMed )
Supplement: pone.0258777.s002.xlsx › Feuil1

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Tang D et al.

Scientific Reports, 2018

30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
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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."