Varaico: Literature-Extracted Genetic Variants

Gene:ITGB4
Variant:p.R977C
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ITGB4

NM_000213.5:p.R977C

Associated Papers

Rare variant analysis in multiply affected families, association studies and functional analysis suggest a role for the ITGΒ4 gene in schizophrenia and bipolar disorder.

O'Brien NL et al.

Schizophrenia Research, 2018

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.

Anastasaki C et al.

Oncotarget, 2017

28548933 (PubMed )
Supplement: oncotarget-08-47574-s002.xlsx › Sheet1

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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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."