Publications:

Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.

Diagnostics (Basel, Switzerland)

De Palma, Fatima Domenica Elisa FDE; Nunziato, Marcella M; D'Argenio, Valeria V; Savarese, Maria M; Esposito, Gabriella G; Salvatore, Francesco F

Publication Date: 2021-10-15

Variant appearance in text: DMD: 1812C>T; rs140919039

PubMed Link: 34679607

Variant Present in the following documents:

• Main text
• diagnostics-11-01910.pdf

View BVdb publication page

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: DMD: 1812C>T; A604A

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM12_ESM.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: DMD: 1812C>T; Ala604=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page