Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.H27Y
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MRPL28

NM_006428.5:p.H27Y

Associated Papers

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Babbs C et al.

Journal of Medical Genetics, 2020

32005695 (PubMed )
Supplement: jmedgenet-2019-106528supp001.pdf

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-AO-A03R-01A.domain

A single-nucleotide polymorphism in the human p27kip1 gene (-838C>A) affects basal promoter activity and the risk of myocardial infarction.

González P et al.

Bmc Biology, 2004

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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."