Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.R959Q
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NPHP4

NM_015102.5:p.R959Q

Associated Papers

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

M'hamdi O et al.

Clinical Genetics, 2014

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C et al.

Journal of Medical Genetics, 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

Expression and sequence analysis of candidates for the 1p36.31 tumor suppressor gene deleted in neuroblastomas.

Okawa ER et al.

Oncogene, 2008

[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial].

Chaabouni M et al.

La Tunisie Medicale, 2007

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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."