Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.P1160L
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NPHP4

NM_015102.5:p.P1160L

Associated Papers

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants

NPHP4 variants are associated with pleiotropic heart malformations.

French VM et al.

Circulation Research, 2012

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Davis EE et al.

Nature Genetics, 2011

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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."