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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALPL

Variant:p.A507_A508del1

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ALPL

NM_000478.6:p.A507_A508del1

hg38:chr1:21577590 TTGC>T

Associated Papers

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.

Mornet E et al.

European Journal of Human Genetics : Ejhg, 2021

32973344 (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."