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Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).
Int J Mol Sci
; 24(9)2023 May 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37176161
2.
Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease.
Biomedicines
; 11(11)2023 Nov 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38002082
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