Varaico: Literature-Extracted Genetic Variants

Gene:NCOA6
Variant:p.L349F
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NCOA6

NM_014071.5:p.L349F

Associated Papers

Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.

Zheng Y et al.

Hepatology International, 2024

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

Chen J et al.

Orphanet Journal of Rare Diseases, 2022

Identification of rare variants of allergic rhinitis based on whole genome sequencing and gene expression profiling: A preliminary investigation in four families.

Zhang Y et al.

The World Allergy Organization Journal, 2019

31236190 (PubMed )
Supplement: mmc1.doc
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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."