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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS1

Variant:p.G643E

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HPS1

NM_000195.5:p.G643E

hg38:chr10:98418187 C>T

Associated Papers

Genetic variants in children with chronic respiratory diseases.

Alsamri MT et al.

Pediatric Pulmonology, 2020

32662942 (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."