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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUBGCP6

Variant:p.G1529S

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TUBGCP6

NM_020461.4:p.G1529S

hg38:chr22:50219109 C>T

Associated Papers

Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders.

Zhang L et al.

Molecular Genetics & Genomic Medicine, 2023

37489029 (PubMed )

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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."