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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACE

Variant:p.S427_S429del3

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ACE

NM_000789.4:p.S427_S429del3

hg38:chr17:63482624 TCTCGGTCTC>T

Associated Papers

A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.

Ferraro PM et al.

Urolithiasis, 2017

27639704 (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."