Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.D1194N
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NPHS1

NM_004646.4:p.D1194N

Associated Papers

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.

Sen ES et al.

Journal of Medical Genetics, 2017

28780565 (PubMed )
Supplement: jmedgenet-2017-104811supp002.docx
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