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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DLGAP1

Variant:p.E84Q

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DLGAP1

NM_004746.4:p.E84Q

hg38:chr18:3879819 C>G

Associated Papers

Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders.

Woike D et al.

Scientific Reports, 2022

35042901 (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."