Varaico: Literature-Extracted Genetic Variants

Gene:ACY1
Variant:p.R378W
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ACY1

NM_000666.3:p.R378W

Associated Papers

Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.

Mohammadi MF et al.

Irish Journal of Medical Science, 2024

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM6_ESM.xlsx › SD2_-_ExAC_Variants

The molecular basis of aminoacylase 1 deficiency.

Sommer A et al.

Biochimica Et Biophysica Acta, 2011

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