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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC2A2

Variant:p.L468F

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SLC2A2

NM_000340.2:p.L468F

hg38:chr3:170998076 G>A

Associated Papers

Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.

Bergwitz C et al.

Pflugers Archiv : European Journal of Physiology, 2019

30109410 (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."