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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC5

Variant:p.E77_V78del1

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EXOSC5

NM_020158.4:p.E77_V78del1

hg38:chr19:41392896 ACTT>A

Associated Papers

Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy.

Wijnsma KL et al.

International Journal of Molecular Sciences, 2024

39062862 (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."