Clinical DNA Variant Interpretation
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Published By Elsevier

9780128205198
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Quantitative modeling

2021 ◽  
pp. 41-58
Author(s):  
Bryony A. Thompson ◽  
Cristina Fortuno
Keyword(s):  
Quantitative Modeling

Data sharing and gene variant databases

2021 ◽  
pp. 221-236
Author(s):  
Johan T. den Dunnen ◽  
Ivo F.A.C. Fokkema
Keyword(s):  
Data Sharing ◽  
Gene Variant

Functional evidence (I) transcripts and RNA-splicing outline

2021 ◽  
pp. 121-144
Author(s):  
Mara Colombo ◽  
Paolo Radice ◽  
Miguel de la Hoya
Keyword(s):  
Rna Splicing

Introduction

2021 ◽  
pp. 1-5
Author(s):  
Jordan Lerner-Ellis ◽  
Amanda Spurdle ◽  
Conxi Lázaro

Hearing loss

2021 ◽  
pp. 305-322
Author(s):  
Anna Morgan ◽  
Paolo Gasparini ◽  
Giorgia Girotto
Keyword(s):  
Hearing Loss

Familial hypercholesterolemia

2021 ◽  
pp. 323-348
Author(s):  
Joana Rita Chora ◽  
Ana Margarida Medeiros ◽  
Ana Catarina Alves ◽  
Mafalda Bourbon
Keyword(s):  
Familial Hypercholesterolemia

Inherited cardiomyopathies

2021 ◽  
pp. 277-290
Author(s):  
Ebony Richardson ◽  
Renee Johnson ◽  
Jodie Ingles
Keyword(s):  
Inherited Cardiomyopathies

RASopathies

2021 ◽  
pp. 389-398
Author(s):  
Lisa M. Vincent ◽  
Karen W. Gripp ◽  
Heather Mason-Suares
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