Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.T219R
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NBAS

NM_015909.4:p.T219R

Associated Papers

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

A novel somatic mutation of SIN3A detected in breast cancer by whole-exome sequencing enhances cell proliferation through ERα expression.

Watanabe K et al.

Scientific Reports, 2018

30375428 (PubMed )
Supplement: 41598_2018_34290_MOESM5_ESM.xlsx › Sheet1

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.

Chen LS et al.

Genetics and Molecular Research : Gmr, 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."