Varaico: Literature-Extracted Genetic Variants

Gene:BAALC
Variant:p.P88Q
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BAALC

NM_024812.3:p.P88Q

Associated Papers

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Roychaudhury A et al.

Annals of Neurology, 2024

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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."