Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.G1161Splc
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NPHS1

NM_004646.4:p.G1161Splc

Associated Papers

Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.

Fu R et al.

Genetics and Molecular Research : Gmr, 2015

Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.

Uysal B et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].

Shi Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

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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."