Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.P748A
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NPHS1

NM_004646.4:p.P748A

Associated Papers

Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.

Lee BH et al.

Journal of Korean Medical Science, 2009

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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."