Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q132*
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DMD

NM_004006.3:p.Q132*

Associated Papers

Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.

Kumar SH et al.

Plos One, 2020

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Jolly A et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Wang L et al.

Frontiers in Genetics, 2019

30833962 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table
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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."