Varaico: Literature-Extracted Genetic Variants

Gene:MN1
Variant:p.L1245fs
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MN1

NM_002430.3:p.L1245fs

Associated Papers

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Mak CCY et al.

Ebiomedicine, 2025

40280028 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome.

Yu JJ et al.

The Chinese Journal of Dental Research, 2024

Editorial: Sub-molecular mechanism of genetic epilepsy.

Liao WP et al.

Frontiers in Molecular Neuroscience, 2022

MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 Gene.

Tian Q et al.

Frontiers in Molecular Neuroscience, 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."