Varaico: Literature-Extracted Genetic Variants

Gene:POU2F1
Variant:p.Q208Q
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POU2F1

NM_002697.4:p.Q208Q

Associated Papers

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.

Kmoch S et al.

Human Molecular Genetics, 2000

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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."