Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V60L
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PAH

NM_000277.3:p.V60L

Associated Papers

Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.

Koshiba S et al.

Communications Biology, 2020

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S12_RASopathy_A
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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."