Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.T2857T
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DMD

NM_004006.3:p.T2857T

Associated Papers

DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.

Ge L et al.

Open Medicine (warsaw, Poland), 2024

39588385 (PubMed )
Supplement: med-2024-0916-sm3.xls › Attached_file_1-gnomAD_v2.1.1_E

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

Torella A et al.

The Journal of Molecular Diagnostics : Jmd, 2010

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