Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.G44E
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EXOSC6

NM_058219.3:p.G44E

Associated Papers

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

In response to the letter to the editor regarding: Serious assessment of mtDNA variants is a prerequisite to confirm pathogenicity.

Lu Y et al.

Journal of the Neurological Sciences, 2017

Genotype-phenotype correlation of PAX6 gene mutations in aniridia.

Yokoi T et al.

Human Genome Variation, 2016

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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."