Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.I550_S551insFs
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MAML1

NM_014757.5:p.I550_S551insFs

Associated Papers

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

Helle E et al.

Genetic Epidemiology, 2019

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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."