Associated Papers
Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.
Qu Y et al.
Heliyon, 2024
Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in DMD in an Asymptomatic Male and a DMD Patient.
Bai Y et al.
Frontiers in Genetics, 2022
Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China.
Hu C et al.
Frontiers in Neurology, 2022
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
Bai J et al.
Journal of Molecular Neuroscience : Mn, 2021
Identification of molecular alterations in gastrointestinal carcinomas and dysplastic hamartomas in Peutz-Jeghers syndrome.
Korsse SE et al.
Carcinogenesis, 2013
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