Small RNA sequencing reveals a novel tsRNA‐06018 playing an important role during adipogenic differentiation of hMSCs
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Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient
Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...
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ژورنال
عنوان ژورنال: Journal of Cellular and Molecular Medicine
سال: 2020
ISSN: 1582-1838,1582-4934
DOI: 10.1111/jcmm.15858