Varaico: Literature-Extracted Genetic Variants

Gene:PIGB
Variant:p.L139_I140Splc
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PIGB

NM_004855.5:p.L139_I140Splc

Associated Papers

RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.

Baker EK et al.

Molecular Genetics and Genomics : Mgg, 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."