Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.G722A
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ABCB4

NM_000443.4:p.G722A

Associated Papers

Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Schatz SB et al.

Hepatology Communications, 2018

An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.

Dixon PH et al.

Scientific Reports, 2017

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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."