Varaico: Literature-Extracted Genetic Variants

Gene:POU3F4
Variant:p.S288C
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POU3F4

NM_000307.5:p.S288C

Associated Papers

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.

Su Y et al.

Bmc Medical Genetics, 2018

Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.

Li J et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2010

The HXT2 gene of Saccharomyces cerevisiae is required for high-affinity glucose transport.

Kruckeberg AL et al.

Molecular and Cellular Biology, 1990

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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."