Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.E443fs
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CHRNE

NM_000080.4:p.E443fs

Associated Papers

A severe ABCC6 -induced generalized arterial calcification of infancy overshadowed by the EGFR -associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.

Karabinos A et al.

The Journal of Dermatology, 2025

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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."