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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC5

Variant:p.H30delins

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EXOSC5

NM_020158.4:p.H30delins

hg38:chr19:41397240 TG>GT

Associated Papers

Risk of sudden cardiac death in EXOSC5-related disease.

Calame DG et al.

American Journal of Medical Genetics. Part A, 2021

34089229 (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."