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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIP4

Variant:p.R46*

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TRIP4

NM_016213.5:p.R46*

hg38:chr15:64393980 C>T

Associated Papers

'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.

Frongia I et al.

Journal of Neuromuscular Diseases, 2024

38143368 (PubMed )

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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."