Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.N1132N
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RPGR

NM_001034853.2:p.N1132N

Associated Papers

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5

De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.

Maggi J et al.

Genes, 2020

An analysis of mutational signatures of synonymous mutations across 15 cancer types.

Bin Y et al.

Bmc Medical Genetics, 2019

31815613 (PubMed )
Supplement: 12881_2019_926_MOESM2_ESM.xlsx › Neutral_synonymous_mutations

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J et al.

Molecular Vision, 2008

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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."