Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B4
Variant:p.R268Q
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ATP2B4

NM_001684.5:p.R268Q

Associated Papers

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders.

Li MJ et al.

Human Mutation, 2015

Plasma membrane calcium ATPases: From generic Ca(2+) sump pumps to versatile systems for fine-tuning cellular Ca(2.).

Strehler EE

Biochemical and Biophysical Research Communications, 2015

PMCA4 (ATP2B4) mutation in familial spastic paraplegia causes delay in intracellular calcium extrusion.

Ho PW et al.

Brain and Behavior, 2015

PMCA4 (ATP2B4) mutation in familial spastic paraplegia.

Li M et al.

Plos One, 2014

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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."