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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HP

Variant:p.D378V

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HP

NM_005143.5:p.D378V

hg38:chr16:72060802 A>T

Associated Papers

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.

Simon-Bouy B et al.

Prenatal Diagnosis, 2008

18925618 (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."