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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASK

Variant:p.M432_A433Splc

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CASK

NM_001126055.3:p.M432_A433Splc

hg38:chrX:41586906 C>A

Associated Papers

Presynaptic dysfunction in CASK-related neurodevelopmental disorders.

Becker M et al.

Translational Psychiatry, 2020

32929080 (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."