Varaico: Literature-Extracted Genetic Variants

Gene:MN1
Variant:p.M1229fs
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MN1

NM_002430.3:p.M1229fs

Associated Papers

A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.

Palma Milla C et al.

Journal of Pediatric Genetics, 2023

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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."