Varaico: Literature-Extracted Genetic Variants

Gene:GLRB
Variant:p.F204Splc
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GLRB

NM_000824.5:p.F204Splc

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

A new family with GLRB-related hyperekplexia showing chorea in homo- and heterozygous variant carriers.

Estevez-Fraga C et al.

Parkinsonism & Related Disorders, 2020

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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."