Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.R209L
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BSCL2

NM_001122955.4:p.R209L

Associated Papers

Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.

Akter H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.

Yarali O et al.

Journal of Neurogenetics, 2024

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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."