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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HGS

Variant:p.S349insFs

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HGS

NM_004712.5:p.S349insFs

hg38:chr17:81694993 T>TA

Associated Papers

Clinical characteristics and outcomes of chédiak-Higashi syndrome: a nationwide survey of Japan.

Nagai K et al.

Pediatric Blood & Cancer, 2013

23804531 (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."