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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GRIN2A

Variant:p.E714fs

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GRIN2A

NM_001134407.3:p.E714fs

hg38:chr16:9822292 CTC>N

Associated Papers

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Strehlow V et al.

Brain : a Journal of Neurology, 2019

30544257 (PubMed )

Supplement: awy304_supp.zip › awy304-suppl_data › brain-2018-01122-File012.xlsx › Tabelle1

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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."