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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UROD

Variant:p.H339N

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UROD

NM_000374.5:p.H339N

hg38:chr1:45015409 C>A

Associated Papers

Mutational analysis of human uroporphyrinogen decarboxylase.

Wyckoff EE et al.

Biochimica Et Biophysica Acta, 1996

8980654 (PubMed )

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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."