Varaico: Literature-Extracted Genetic Variants

Gene:CACNB3
Variant:p.R388C
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CACNB3

NM_000725.4:p.R388C

Associated Papers

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.

Rosain J et al.

Cell, 2023

36736301 (PubMed )
Supplement: NIHMS1860716-supplement-Supplementary_Tables.pdf

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-s2.xlsx › UH2T2
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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."