Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.E581K
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ATP8B1

NM_001374385.1:p.E581K

Associated Papers

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

Wang NL et al.

Plos One, 2016

Hypothyroidism Associated with ATP8B1 Deficiency.

Li L et al.

The Journal of Pediatrics, 2015

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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."