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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GDI1

Variant:p.P322S

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GDI1

NM_001493.3:p.P322S

hg38:chrX:154441767 C>T

Associated Papers

Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage.

Collins BE et al.

Neuropsychiatric Disease and Treatment, 2022

36471747 (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."