Varaico: Literature-Extracted Genetic Variants

Gene:RFXAP
Variant:p.L108*
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RFXAP

NM_000538.4:p.L108*

Associated Papers

A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review.

Cai YQ et al.

Open Forum Infectious Diseases, 2020

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.

Wang JC et al.

European Journal of Human Genetics : Ejhg, 2015

Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome.

Kuo CY et al.

The Journal of Allergy and Clinical Immunology, 2013

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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."