Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.T611del1
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MAN1B1

NM_016219.5:p.T611del1

Associated Papers

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

Qi R et al.

Frontiers in Endocrinology, 2025

MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.

Hoffjan S et al.

Molecular Syndromology, 2015

MAN1B1 deficiency: an unexpected CDG-II.

Rymen D et al.

Plos Genetics, 2013

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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."