| Autor: |
Bouras, Ahmed, Grand-Masson, Chloé, Lefol, Cedrick, Ruano, Eric, Prieur, Fabienne, Wang, Qing |
| Předmět: |
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| Zdroj: |
Familial Cancer; Nov2024, Vol. 23 Issue 4, p671-673, 3p |
| Abstrakt: |
The document discusses a case study of a female patient with gastric cancer and an intronic non-canonical CDH1 variant. The study used in silico splicing prediction and RNA analysis to determine the variant's impact on splicing. The findings classified the variant as pathogenic and highlighted the importance of RNA analysis in determining the pathogenicity of variants. This research contributes to enriching the understanding of CDH1 mutations, particularly splicing variants. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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