Varaico: Literature-Extracted Genetic Variants

Gene:IBSP
Variant:p.S18_M19Splc
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IBSP

NM_004967.4:p.S18_M19Splc

Associated Papers

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

Lorenz-Depiereux B et al.

Nature Genetics, 2006

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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."