Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.P1204L
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NPHP4

NM_015102.5:p.P1204L

Associated Papers

Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.

Bekheirnia N et al.

Kidney360, 2021

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM et al.

Cilia, 2016

27069622 (PubMed )
Supplement: 13630_2016_29_MOESM1_ESM.xls › Total_variants
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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."