Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.L224delFs
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SLC34A3

NM_001177316.2:p.L224delFs

Associated Papers

Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone.

Dreimane D et al.

Therapeutic Advances in Musculoskeletal Disease, 2020

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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."