Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

Abstract RASopathies are a group of heterogeneous conditions caused by germline mutations in RAS/MAPK signalling pathway genes. With next-generation sequencing (NGS), sequencing capacity is no longer a limitation to molecular diagnosis. Instead, the rising number of variants of unknown significance...

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Auteurs principaux: Gordon K. C. Leung, H. M. Luk, Vincent H. M. Tang, W. W. Gao, Christopher C. Y. Mak, Mullin H. C. Yu, W. L. Wong, Yoyo W. Y. Chu, W. L. Yang, Wilfred H. S. Wong, Alvin C. H. Ma, Anskar Y. H. Leung, D. Y. Jin, Kelvin Y. K. Chan, Judith Allanson, Ivan F. M. Lo, Brian H. Y. Chung
Format: article
Langue:EN
Publié: Nature Portfolio 2018
Sujets:
Medicine
R
Science
Q
Accès en ligne:https://doaj.org/article/e980db126d344af19a9dfb09f4501b49
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