Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.S477delFs
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SLC6A5

NM_004211.5:p.S477delFs

Associated Papers

Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.

Falsaperla R et al.

Journal of Child Neurology, 2024

Novel mutations in SLC6A5 with benign course in hyperekplexia.

Dafsari HS et al.

Cold Spring Harbor Molecular Case Studies, 2019

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