Varaico: Literature-Extracted Genetic Variants

Gene:APH1A
Variant:p.G38R
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APH1A

NM_001077628.3:p.G38R

Associated Papers

Negative evidence for a role of APH1B T27I variant in Alzheimer's disease.

Zhang X et al.

Human Molecular Genetics, 2020

Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample.

Jiao J et al.

Journal of Molecular Neuroscience : Mn, 2020

Aph-1 contributes to the stabilization and trafficking of the gamma-secretase complex through mechanisms involving intermolecular and intramolecular interactions.

Niimura M et al.

The Journal of Biological Chemistry, 2005

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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."