Varaico: Literature-Extracted Genetic Variants

Gene:GABRD
Variant:p.L11insFs
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GABRD

NM_000815.5:p.L11insFs

Associated Papers

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.

Pelgrims E et al.

American Journal of Medical Genetics. Part A, 2023

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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."