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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:B4GALNT1

Variant:p.G383_V386delFs

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B4GALNT1

NM_001478.5:p.G383_V386delFs

hg38:chr12:57627845 ACCGCGCCC>A

Associated Papers

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.

Santana Almansa A et al.

Annals of Clinical and Translational Neurology, 2024

38168508 (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."