Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B4
Variant:p.R1059Q
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ATP8B4

NM_024837.4:p.R1059Q

Associated Papers

Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.

Wieben ED et al.

Investigative Ophthalmology & Visual Science, 2019

31469403 (PubMed )
Supplement: iovs-60-10-11_s03.pdf

The genomic landscape of pediatric Ewing sarcoma.

Crompton BD et al.

Cancer Discovery, 2014

25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613705_nwcnpj.xlsx › 16_MAF_cell_line

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › rd1_f40r3
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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."