Varaico: Literature-Extracted Genetic Variants

Gene:PABPC3
Variant:p.S600Y
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PABPC3

NM_030979.3:p.S600Y

Associated Papers

Whole Exome Sequencing of Multiple Atypical Meningiomas in a Patient without History of Neurofibromatosis Type II: A Case Report.

Lyu J et al.

The American Journal of Case Reports, 2020

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2

Patterns and modulations of Pendular nystagmus in a family with hereditary spastic paraplegia.

Oh EH et al.

Journal of the Neurological Sciences, 2017

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s003.xlsx › Egyptian-specific
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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."