Varaico: Literature-Extracted Genetic Variants

Gene:MN1
Variant:p.Q1254*
Back to variants list

MN1

NM_002430.3:p.Q1254*

Associated Papers

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

Yu JJ et al.

The Chinese Journal of Dental Research, 2024

Diagnosis and treatment of MN1 C-terminal truncation syndrome.

Yu J et al.

Molecular Genetics & Genomic Medicine, 2022

Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1-2 years after initial analysis.

Liu Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."