Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B2
Variant:p.E629K
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ATP2B2

NM_001001331.4:p.E629K

Associated Papers

Two ENU-induced alleles of Atp2b2 cause deafness in mice.

Carpinelli MR et al.

Plos One, 2013

The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.

Bortolozzi M et al.

The Journal of Biological Chemistry, 2010

Ca2+ homeostasis defects and hereditary hearing loss.

Mammano F

Biofactors (oxford, England), 0

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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."