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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PUS3

Variant:p.L116_F121delFs

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PUS3

NM_001271985.2:p.L116_F121delFs

hg38:chr11:125894245 AACTTACAGTCATAT>A

Associated Papers

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum.

Borghesi A et al.

American Journal of Medical Genetics. Part A, 2022

34713961 (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."