Varaico: Literature-Extracted Genetic Variants

Gene:CREM
Variant:p.S24F
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CREM

NM_183011.2:p.S24F

Associated Papers

A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.

Ribasés M et al.

Molecular Genetics and Metabolism, 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."