Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.K246_V247Splc
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NPHS2

NM_014625.4:p.K246_V247Splc

Associated Papers

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Chau JFT et al.

Npj Genomic Medicine, 2022

35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV

Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

Wang F et al.

Pediatric Nephrology (berlin, Germany), 2017

NPHS2 Mutations: A Closer Look to Latin American Countries.

Guaragna MS et al.

Biomed Research International, 2017

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