Varaico: Literature-Extracted Genetic Variants

Gene:THBS4
Variant:p.Q954H
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THBS4

NM_003248.6:p.Q954H

Associated Papers

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.

Rosain J et al.

Cell, 2023

36736301 (PubMed )
Supplement: NIHMS1860716-supplement-Supplementary_Tables.pdf

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
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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."