Varaico: Literature-Extracted Genetic Variants

Gene:PPIP5K2
Variant:p.S419A
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PPIP5K2

NM_001276277.3:p.S419A

Associated Papers

Identification of Keratoconus-Related Phenotypes in Three Ppip5k2 Mouse Models.

Akoto T et al.

Investigative Ophthalmology & Visual Science, 2024

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.

González-Atienza C et al.

Genes, 2023

PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.

Khaled ML et al.

Scientific Reports, 2019

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

Yousaf R et al.

Plos Genetics, 2018

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A049-01A.domain
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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."