Suchergebnisse - "Aberrant splicing"

PubPharm (239)

1

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family

enthalten in: BMC medical genomics | 2024

von Chen, S. | Xu, G. | Zhao, Z. | +3

2

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family

enthalten in: BMC medical genomics | 2024

von Chen, S. | Xu, G. | Zhao, Z. | +3

3

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy

enthalten in: Human genetics | 2024

von Kopp, J. | Koch, L. | Lyubenova, H. | +12

4

Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants

enthalten in: The Journal of pathology | 2024

von Sanoguera-Miralles, L. | Llinares-Burguet, I. | Bueno-Martínez, E. | +8

5

Therapeutic strategies for aberrant splicing in cancer and genetic disorders

enthalten in: Clinical genetics | 2024

von Shi, W. | Tang, J. | Xiang, J.

6

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy : A case report

enthalten in: Heliyon | 2024

von Liu, C. | Lu, Y. | Yu, H. | +10

7

Clinical and genetic interpretation of uncertain DMD missense variants : evidence from mRNA and protein studies

enthalten in: Orphanet journal of rare diseases | 2024

von Xie, Z. | Liu, C. | Yu, H. | +14

8

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

enthalten in: Orphanet journal of rare diseases | 2024

von Xie, Z. | Liu, C. | Yu, H. | +14

9

Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA sequencing

enthalten in: Neuroscience research | 2024

von Yoshizumi, K. | Nishi, M. | Igeta, M. | +6

10

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

in: Orphanet Journal of Rare Diseases | 2024

von Zhiying Xie | Chang Liu | Haiyan Yu | +14

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