Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation-Reference-Cited by-同舟云学术

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

Published:2021-04 Issue:4 Volume:108 Page:696-708
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Truty Rebecca,Ouyang Karen,Rojahn Susan,Garcia Sarah,Colavin Alexandre,Hamlington Barbara,Freivogel Mary,Nussbaum Robert L.,Nykamp Keith,Aradhya Swaroop^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference49 articles.

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4. Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes;Brandão;Int. J. Cancer,2019

5. Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant;Nix;JCO Precision Oncology,2020

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