Varaico: Literature-Extracted Genetic Variants

Gene:ACSM5
Variant:p.A173V
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ACSM5

NM_017888.3:p.A173V

Associated Papers

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

Leiter SM et al.

European Journal of Endocrinology, 2017

28566443 (PubMed )
Supplement: eje-177-175-t001.pdf
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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."