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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UNC13A

Variant:p.G808S

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UNC13A

NM_001080421.3:p.G808S

hg38:chr19:17642895 C>T

Associated Papers

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

Sánchez-Lijarcio O et al.

Clinical Genetics, 2022

35388452 (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."