Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.I1974_H1975Splc
Back to variants list

DMD

NM_004006.3:p.I1974_H1975Splc

Associated Papers

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

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."