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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRD

Variant:p.A231Splc

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GABRD

NM_000815.5:p.A231Splc

hg38:chr1:2028294 T>G

Associated Papers

GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.

Li X et al.

Journal of Translational Medicine, 2024

39143639 (PubMed )

GABA(A) receptor epilepsy mutations.

Macdonald RL et al.

Biochemical Pharmacology, 2004

15451392 (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."