Varaico: Literature-Extracted Genetic Variants

Gene:HR
Variant:p.Q897_V898del2
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HR

NM_005144.5:p.Q897_V898del2

Associated Papers

Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.

Morey M et al.

Bmc Medical Genetics, 2011

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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."