Varaico: Literature-Extracted Genetic Variants

Gene:TUFM
Variant:p.M1T
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TUFM

NM_003321.5:p.M1T

Associated Papers

5' preS1 Mutations To Prevent Large Envelope Protein Expression from Hepatitis B Virus Genotype A or Genotype D Markedly Increase Polymerase-Envelope Fusion Protein.

Zhang J et al.

Journal of Virology, 2022

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Mendes MI et al.

Annals of Clinical and Translational Neurology, 2020

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Tirosh I et al.

The Journal of Allergy and Clinical Immunology, 2019

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Fernández-Marmiesse A et al.

Orphanet Journal of Rare Diseases, 2014

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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."