Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.L258fs
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MAN1B1

NM_016219.5:p.L258fs

Associated Papers

Bi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay.

Zang L et al.

International Journal of Molecular Sciences, 2025

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

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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."