<p>*HGMD Access code.</p><p><sup>#</sup>Variant Classification according to the ACMG and AMP guidelines [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0138314#pone.0138314.ref078" target="_blank">78</a>]. NA: Not applicable.</p><p>Summary of causative mutations identified after molecular analysis in the investigated cases.</p
Recent technological advances have created challenges for geneticists and a need to adapt to a wide ...
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evid...
The American College of Medical Genetics and Genomics (ACMG) recommends that clini-cal sequencing la...
<p>doi:10.1371/journal.pone.0078496.t001</p><p>Causative mutations and putatively pathogenic variant...
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evid...
previously developed guidance for the interpretation of sequence variants.1 In the past decade, sequ...
<p><sup>a</sup>Sex, age: ‘-’ shows that the sex or age of a sample is not available.</p><p><sup>b</s...
<p><sup>a</sup>Not described in HGMD, present in CentoMD [<a href="http://www.plosone.org/article/in...
PURPOSE: The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathol...
Purpose: The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathol...
<div><p>The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequen...
The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing lab...
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evid...
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evid...
Recent technological advances have created challenges for geneticists and a need to adapt to a wide ...
Recent technological advances have created challenges for geneticists and a need to adapt to a wide ...
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evid...
The American College of Medical Genetics and Genomics (ACMG) recommends that clini-cal sequencing la...
<p>doi:10.1371/journal.pone.0078496.t001</p><p>Causative mutations and putatively pathogenic variant...
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evid...
previously developed guidance for the interpretation of sequence variants.1 In the past decade, sequ...
<p><sup>a</sup>Sex, age: ‘-’ shows that the sex or age of a sample is not available.</p><p><sup>b</s...
<p><sup>a</sup>Not described in HGMD, present in CentoMD [<a href="http://www.plosone.org/article/in...
PURPOSE: The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathol...
Purpose: The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathol...
<div><p>The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequen...
The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing lab...
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evid...
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evid...
Recent technological advances have created challenges for geneticists and a need to adapt to a wide ...
Recent technological advances have created challenges for geneticists and a need to adapt to a wide ...
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evid...
The American College of Medical Genetics and Genomics (ACMG) recommends that clini-cal sequencing la...