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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACACA

Variant:p.A109Fs

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ACACA

NM_198834.3:p.A109Fs

hg38:chr17:37330185 GC>A

Associated Papers

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.

Bouys L et al.

Orphanet Journal of Rare Diseases, 2025

39910635 (PubMed )

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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."