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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMPD1

Variant:p.C12_Q19insFs

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SMPD1

NM_000543.5:p.C12_Q19insFs

hg38:chr11:6390631 C>CTGCCCCAGGTCCGGCCGGGAGCA

Associated Papers

Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.

Chan MJ et al.

The Journal of Pediatrics, 2019

30409495 (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."