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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOC2

Variant:p.R437*

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EXOC2

NM_018303.6:p.R437*

hg38:chr6:576766 G>A

Associated Papers

The exocyst complex in neurological disorders.

Halim DO et al.

Human Genetics, 2023

37085629 (PubMed )

Mutations in the exocyst component EXOC2 cause severe defects in human brain development.

Van Bergen NJ et al.

The Journal of Experimental Medicine, 2020

32639540 (PubMed )

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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."