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Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3189545592

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex

About this item

Full title

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex

Publisher

United States: John Wiley & Sons, Inc

Journal title

Human mutation, 2025-01, Vol.2025 (1), p.1497712

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Tuberous sclerosis complex (TSC) is characterized by abnormalities in cell proliferation and migration, leading to the development of hamartomas, benign tumors, or malignant cancers, affecting both the skin and brain, as well as potentially impacting the heart, kidneys, lungs, and eyes, with varying patterns of involvement over a lifetime. It is pr...

Alternative Titles

Full title

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_3189545592

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3189545592

Other Identifiers

ISSN

1059-7794,1098-1004

E-ISSN

1098-1004

DOI

10.1155/humu/1497712

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