Varaico: Literature-Extracted Genetic Variants

Gene:GABRB3
Variant:p.S27Splc
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GABRB3

NM_000814.6:p.S27Splc

Associated Papers

Pathogenicity Prediction of GABAA Receptor Missense Variants.

Wang YJ et al.

Biorxiv : the Preprint Server for Biology, 2023

38014242 (PubMed )
Supplement: media-3.xlsx › b3_CV-AM-RS

Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.

Vrettou C et al.

Human Mutation, 2004

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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."