Varaico: Literature-Extracted Genetic Variants

Gene:ACAD11
Variant:p.R678C
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ACAD11

NM_032169.5:p.R678C

Associated Papers

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1843.647
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