Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1
Variant:p.A8Splc
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RBCK1

NM_031229.4:p.A8Splc

Associated Papers

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

Kim SH et al.

Journal of Korean Medical Science, 2025

40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003

The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.

Lu HY et al.

Frontiers in Immunology, 2018

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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."