Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.D613delFs
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MAN1B1

NM_016219.5:p.D613delFs

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

Pathophysiological Mechanism of Neurodevelopmental Disorders-Overview.

Nagata KI

Cells, 2022

Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.

Okamoto N et al.

Cells, 2021

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
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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."