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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRODH

Variant:p.M273K

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PRODH

NM_016335.6:p.M273K

hg38:chr22:18922848 A>T

Associated Papers

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Martinelli D et al.

Orphanet Journal of Rare Diseases, 2015

25874378 (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."