Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.I742T
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NPHS1

NM_004646.4:p.I742T

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

Congenital nephrotic syndrome with a novel NPHS1 mutation.

Yoshizawa C et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.

Yang F et al.

Journal of Genetics, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

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

Fu R et al.

Genetics and Molecular Research : Gmr, 2015

Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.

Wu LQ et al.

Genetics and Molecular Research : Gmr, 2011

[Updates on the molecular genetics of congenital nephrotic syndrome].

Zhang HW et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011

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