Varaico: Literature-Extracted Genetic Variants

Gene:B3GAT3
Variant:p.L21del1
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B3GAT3

NM_012200.4:p.L21del1

Associated Papers

A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum.

Daşar T et al.

Molecular Syndromology, 2024

B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.

Bolund ACS et al.

European Journal of Medical Genetics, 2021

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