Associated Papers
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting.
Petzold F et al.
Nutrients, 2023
37432176 (PubMed )
Supplement: nutrients-15-02081-s001.zip › nutrients-2345107-supplementary.pdf
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Rush ET et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
34633109 (PubMed )
Supplement: JBMR-37-202-s001.xlsx › Supplemental_Table_2
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
Gordon RJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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