Varaico: Literature-Extracted Genetic Variants

Gene:TRNT1
Variant:p.R412*
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TRNT1

NM_182916.3:p.R412*

Associated Papers

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).

Li Y et al.

Journal of Clinical Immunology, 2023

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.

Maccora I et al.

Journal of Clinical Immunology, 2023

Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.

Chen X et al.

Frontiers in Pediatrics, 2023

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.

Odom J et al.

American Journal of Medical Genetics. Part A, 2022

Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review.

Orlando F et al.

Clinical Rheumatology, 2021

The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).

Bisgin A et al.

Scientific Reports, 2021

33859323 (PubMed )
Supplement: 41598_2021_87898_MOESM2_ESM.pdf

Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.

Kumaki E et al.

International Journal of Hematology, 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."