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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASRGL1

Variant:p.L226P

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ASRGL1

NM_001083926.2:p.L226P

hg38:chr11:62391588 T>C

Associated Papers

Enzyme-replacement therapy in life-threatening hypophosphatasia.

Whyte MP et al.

The New England Journal of Medicine, 2012

22397652 (PubMed )

Physiological role of alkaline phosphatase explored in hypophosphatasia.

Whyte MP

Annals of the New York Academy of Sciences, 2010

20392236 (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."