Title : NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

Pub. Date : 2013 Oct

PMID : 23800802






1 Functional Relationships(s)
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1 BACKGROUND: The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful. Steroids NPHS2 stomatin family member, podocin Homo sapiens