Varaico: Literature-Extracted Genetic Variants

Gene:GAP43
Variant:p.E210Splc
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GAP43

NM_002045.4:p.E210Splc

Associated Papers

An unstable variant of GAP43 leads to neurodevelopmental deficiency.

Noda M et al.

Scientific Reports, 2024

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

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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."