Varaico: Literature-Extracted Genetic Variants

Gene:NPHS1
Variant:p.L1093P
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NPHS1

NM_004646.4:p.L1093P

Associated Papers

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Laakkonen H et al.

Pediatric Nephrology (berlin, Germany), 2006

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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."