Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.N579T
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HUWE1

NM_031407.7:p.N579T

Associated Papers

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.

Munnich A et al.

Molecular Autism, 2019

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

Demily C et al.

Journal of Autism and Developmental Disorders, 2018

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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."