Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC3
Variant:p.S2W
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TRAPPC3

NM_014408.5:p.S2W

Associated Papers

A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.

Al-Deri N et al.

Journal of Medical Genetics, 2021

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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."