Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.D390_G391Splc
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NPHS1

NM_004646.4:p.D390_G391Splc

Associated Papers

The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.

Zhu X et al.

Frontiers in Medicine, 2022

35755072 (PubMed )
Supplement: Data_Sheet_1.PDF

Gonadal tumor in Frasier syndrome: a review and classification.

Ezaki J et al.

Cancer Prevention Research (philadelphia, Pa.), 2015

WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.

Cho HY et al.

Pediatric Nephrology (berlin, Germany), 2008

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

Mucha B et al.

Pediatric Research, 2006

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.

Ruf RG et al.

Kidney International, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."