Varaico: Literature-Extracted Genetic Variants

Gene:MN1
Variant:p.V1283fs
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MN1

NM_002430.3:p.V1283fs

Associated Papers

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

Yu JJ et al.

The Chinese Journal of Dental Research, 2024

Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review.

Zhao A et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2022

MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay.

Unknown Author

American Journal of Medical Genetics. Part A, 2020

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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."