Varaico: Literature-Extracted Genetic Variants

Gene:NR1H4
Variant:p.E304insFs
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NR1H4

NM_001206979.2:p.E304insFs

Associated Papers

NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review.

Yang CY et al.

Clinical Case Reports, 2024

A Diagnostic Quagmire: PFIC5 Presenting as a Rare Cause of Neonatal Cholestasis.

Giang S et al.

Acg Case Reports Journal, 2021

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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."