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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETNPPL

Variant:p.G240R

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ETNPPL

NM_031279.4:p.G240R

hg38:chr4:108749447 C>T

Associated Papers

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

Veiga-da-Cunha M et al.

Journal of Inherited Metabolic Disease, 2013

23242558 (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."