Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q2952*
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DMD

NM_004006.3:p.Q2952*

Associated Papers

DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years.

Zhong X et al.

Bmc Medical Genomics, 2021

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

Point mutations in Czech DMD/BMD patients and their phenotypic outcome.

Sedlácková J et al.

Neuromuscular Disorders : Nmd, 2009

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