Varaico: Literature-Extracted Genetic Variants

Gene:RNPC3
Variant:p.E116fs
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RNPC3

NM_017619.4:p.E116fs

Associated Papers

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia.

Olney NT et al.

Acta Neuropathologica, 2017

28828560 (PubMed )
Supplement: 401_2017_1764_MOESM1_ESM.pdf

The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing.

Ye L et al.

Nature Communications, 2017

28580939 (PubMed )
Supplement: ncomms15533-s4.xlsx › mutation_list

Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease.

Rose-Zerilli MJ et al.

Leukemia, 2016

26847028 (PubMed )
Supplement: leu201610x6.xls › 2015_RoseZerilli_WES_in_IGHVmut
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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."