Varaico: Literature-Extracted Genetic Variants

Gene:TBCD
Variant:p.A273Splc
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TBCD

NM_005993.5:p.A273Splc

Associated Papers

A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report.

Caputo M et al.

International Journal of Molecular Sciences, 2023

Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy.

Chen CL et al.

Children (basel, Switzerland), 2021

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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."