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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC34A3

Variant:p.Q445_V446Splc

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SLC34A3

NM_001177316.2:p.Q445_V446Splc

hg38:chr9:137235950 A>G

Associated Papers

Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria.

Sun Y et al.

Genes & Diseases, 2025

39634134 (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."