Código QR (código de barras bidimensional)

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data

ABSTRACT Background Pathogenic variants in the mismatch repair genes are associated with an elevated lifetime risk of colorectal cancer (CRC). We previously identified two variants of uncertain significance (VUS) in the MLH1 gene, c.696_698del, p.(Cys233del) and c.1919C > G, p.(Pro640Arg), in Danish...

全面介紹

Na minha lista:
Principais autores: Jane Hübertz Frederiksen, Ulf Birkedal, Sarah Bachmann, Elisabeth Victoria Eliesen, Lene Juel Rasmussen, Katja Venborg Pedersen, Lana Al‐Zehhawi, Susanne E. Boonen, Lotte Krogh, Karina Rønlund, Lise Graversen, Jannie Assenholt, Kjeld Schmiegelow, Karin Wadt, Anne‐Marie Gerdes, Thomas v. O. Hansen
格式: Artigo
語言:Inglês
出版: Wiley 2024-11-01
叢編:Molecular Genetics & Genomic Medicine
主題:
ACMG/AMP classification
Lynch syndrome
MLH1
nuclear localization
protein stability
RNA splicing analysis
在線閱讀:https://doi.org/10.1002/mgg3.70026
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍