Varaico: Literature-Extracted Genetic Variants

Gene:KDM1A
Variant:p.K117_V118Splc
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KDM1A

NM_001009999.3:p.K117_V118Splc

Associated Papers

KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation.

Bouys L et al.

European Journal of Endocrinology, 2025

Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.

Cavalcante IP et al.

Nature Reviews. Endocrinology, 2022

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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."