Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.A355_E356Splc
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MAN1B1

NM_016219.5:p.A355_E356Splc

Associated Papers

Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome.

Zhalsanova IZ et al.

International Journal of Molecular Sciences, 2022

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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."