a<p>These mutationsare considered pathogenic because they could produce alterations in the splicing process, according to <i>in silico</i> analysis.</p
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
AbstractDisease-causing point mutations are assumed to act predominantly through subsequent individu...
<p>The chromosome and position of the mutation is depicted according to the human genome assembly, h...
<p>The ID and diagnosis of the cases studied as well as the chromosome and position of the mutation ...
<p>List of the non-synonymous, splice and nonsense variants identified in the 439 sequenced samples....
<p>List of potential pathogenic HNF1A missense mutations predicted by all <i>in silico</i> predictio...
Statistical analysis of pathogenicity of somatic mutations in cancer Recent large-scale sequencing s...
Inherited diseases are health problems caused by one or more abnormalities in the genome. It can be ...
List of genes putatively affected by severe mutations according to the VEP analysis with the corresp...
Genes in bold depict predicted pathogenic mutations shared in Family A and B. (DOCX)</p
Mutations in human genetic disease include single base-pair substitutions in coding, regulatory and ...
<p>Mutations which are classified as definitely pathogenic in humans that are found to be fixed in o...
Disease-causing point mutations are assumed to act predominantly through subsequent individual chang...
<p>doi:10.1371/journal.pone.0078496.t001</p><p>Causative mutations and putatively pathogenic variant...
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, ...
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
AbstractDisease-causing point mutations are assumed to act predominantly through subsequent individu...
<p>The chromosome and position of the mutation is depicted according to the human genome assembly, h...
<p>The ID and diagnosis of the cases studied as well as the chromosome and position of the mutation ...
<p>List of the non-synonymous, splice and nonsense variants identified in the 439 sequenced samples....
<p>List of potential pathogenic HNF1A missense mutations predicted by all <i>in silico</i> predictio...
Statistical analysis of pathogenicity of somatic mutations in cancer Recent large-scale sequencing s...
Inherited diseases are health problems caused by one or more abnormalities in the genome. It can be ...
List of genes putatively affected by severe mutations according to the VEP analysis with the corresp...
Genes in bold depict predicted pathogenic mutations shared in Family A and B. (DOCX)</p
Mutations in human genetic disease include single base-pair substitutions in coding, regulatory and ...
<p>Mutations which are classified as definitely pathogenic in humans that are found to be fixed in o...
Disease-causing point mutations are assumed to act predominantly through subsequent individual chang...
<p>doi:10.1371/journal.pone.0078496.t001</p><p>Causative mutations and putatively pathogenic variant...
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, ...
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
AbstractDisease-causing point mutations are assumed to act predominantly through subsequent individu...
<p>The chromosome and position of the mutation is depicted according to the human genome assembly, h...
DOI
Add to ORKG