Varaico: Literature-Extracted Genetic Variants

Gene:PARP8
Variant:p.R287H
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PARP8

NM_024615.4:p.R287H

Associated Papers

Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China.

Liu Y et al.

Frontiers in Cell and Developmental Biology, 2021

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Ling C et al.

Bmc Medical Genetics, 2019

30642278 (PubMed )
Supplement: 12881_2018_725_MOESM2_ESM.xlsx › Sheet1
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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."