Varaico: Literature-Extracted Genetic Variants

Gene:ASCL1
Variant:p.A43del1
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ASCL1

NM_004316.4:p.A43del1

Associated Papers

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

de Pontual L et al.

Human Molecular Genetics, 2003

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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."