Varaico: Literature-Extracted Genetic Variants

Gene:BACE2
Variant:p.G446R
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BACE2

NM_012105.5:p.G446R

Associated Papers

BACE2 variant identified from HSCR patient causes AD-like phenotypes in hPSC-derived brain organoids.

Luo J et al.

Cell Death Discovery, 2022

Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation.

Rao S et al.

Genome Medicine, 2021

Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.

Tang CS et al.

Gastroenterology, 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."