Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.D131Splc
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F9

NM_000133.4:p.D131Splc

Associated Papers

Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.

Okano Y et al.

Journal of Human Genetics, 2011

Two common and three novel PDS mutations in Thai patients with Pendred syndrome.

Snabboon T et al.

Journal of Endocrinological Investigation, 2007

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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."