Varaico: Literature-Extracted Genetic Variants

Gene:WASF1
Variant:p.A300S
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WASF1

NM_003931.3:p.A300S

Associated Papers

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.

Bik-Multanowski M et al.

Acta Biochimica Polonica, 2013

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

Bercovich D et al.

Journal of Human Genetics, 2008

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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."