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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GABRG1

Variant:p.T314K

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GABRG1

NM_173536.4:p.T314K

hg38:chr4:46051614 G>T

Associated Papers

GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay.

Williams A et al.

American Journal of Medical Genetics. Part A, 2022

36121006 (PubMed )

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