Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.P3362_T3363Splc
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DMD

NM_004006.3:p.P3362_T3363Splc

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

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.

Hofstra RM et al.

Human Mutation, 2004

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations.

Mendell JR et al.

Neurology, 2001

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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."