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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SON

Variant:p.S1048delFs

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SON

NM_138927.4:p.S1048delFs

hg38:chr21:33552374 CT>C

Associated Papers

The clinical utility of rapid exome sequencing in a consanguineous population.

Monies D et al.

Genome Medicine, 2023

37344829 (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."