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A molecular mechanism explaining albuminuria in kidney disease

artículo científico publicado en 2020

Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant

scientific article published on 15 February 2019

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

scientific article published on 17 June 2020

The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment

scientific article published on 22 October 2018

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