Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.K87_E88Splc
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DNAI1

NM_012144.4:p.K87_E88Splc

Associated Papers

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Dobrowolski SF et al.

Molecular Genetics and Metabolism, 2011

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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."