Varaico: Literature-Extracted Genetic Variants

Gene:FAM178B
Variant:p.R464C
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FAM178B

NM_001122646.3:p.R464C

Associated Papers

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P5-potential_comp.het.

Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with PDL1 amplification.

Gröschel S et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900363 (PubMed )
Supplement: supp_mcs.a001180_SuppTabS1.xls › snvs
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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."