Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.R255delFs
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IL12RB1

NM_005535.3:p.R255delFs

Associated Papers

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Screening for primary immunodeficiency diseases by next-generation sequencing in early life.

Sun J et al.

Clinical & Translational Immunology, 2020

32431812 (PubMed )
Supplement: CTI2-9-e1138-s001.xlsx › Sheet1

Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.

Ying W et al.

Journal of Clinical Immunology, 2019

Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.

Zhou X et al.

Plos One, 2019

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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."