Varaico: Literature-Extracted Genetic Variants

Gene:TMEM30A
Variant:p.I78M
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TMEM30A

NM_018247.4:p.I78M

Associated Papers

Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.

Hasegawa Y et al.

Orphanet Journal of Rare Diseases, 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."