Varaico: Literature-Extracted Genetic Variants

Gene:TRNT1
Variant:p.F167fs
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TRNT1

NM_182916.3:p.F167fs

Associated Papers

Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.

Villacis RAR et al.

International Journal of Molecular Sciences, 2024

39408606 (PubMed )
Supplement: ijms-25-10275-s001.zip › Supplementary_Tables_-_Revised.xlsx › Table_S2

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

Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.

Bardou MLD et al.

The Australasian Journal of Dermatology, 2021

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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."