Varaico: Literature-Extracted Genetic Variants

Gene:TRNT1
Variant:p.K416delFs
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TRNT1

NM_182916.3:p.K416delFs

Associated Papers

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

Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa.

Sharma TP et al.

Stem Cell Research, 2017

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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."