Varaico: Literature-Extracted Genetic Variants

Gene:GABRB1
Variant:p.M286_T287delins
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GABRB1

NM_000812.4:p.M286_T287delins

Associated Papers

Identification of novel and de novo GABRB1 mutation in Chinese patient with developmental and epileptic encephalopathy 45.

Zhang S et al.

Intractable & Rare Diseases Research, 2023

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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."