Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.R80G
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ACADM

NM_000016.6:p.R80G

Associated Papers

Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.

Wilhelm K et al.

Frontiers in Genetics, 2022

35692825 (PubMed )
Supplement: DataSheet1.xlsx › Supplemental_Table_1-Mutalyzer

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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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."