Varaico: Literature-Extracted Genetic Variants

Gene:POMT1
Variant:p.S727delFs
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POMT1

NM_007171.4:p.S727delFs

Associated Papers

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Safwat S et al.

Neurogenetics, 2024

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

Shaheen R et al.

European Journal of Human Genetics : Ejhg, 2013

Muscular dystrophies due to defective glycosylation of dystroglycan.

Muntoni F et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C et al.

Brain : a Journal of Neurology, 2007

Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.

Alfares AA

International Journal of Health Sciences, 0

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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."