Associated Papers
Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.
Vall-Palomar M et al.
Plos Genetics, 2025
40173198 (PubMed )
Supplement: pgen.1011568.s004.xlsx › Table_2
Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.
Li Y et al.
Molecular Medicine Reports, 2020
32705272 (PubMed )
Supplement: Supplementary_Data1.xlsx › filter_by_duplicate
Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects.
Baumholtz AI et al.
Frontiers in Neuroscience, 2020
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