Varaico: Literature-Extracted Genetic Variants

Gene:ACAD9
Variant:p.R420C
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ACAD9

NM_014049.5:p.R420C

Associated Papers

Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.

Neubauer J et al.

International Journal of Legal Medicine, 2021

33895855 (PubMed )
Supplement: 414_2021_2580_MOESM6_ESM.xlsx › Tabelle1

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

Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.

Neubauer J et al.

International Journal of Legal Medicine, 2018

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