Genes in bold depict predicted pathogenic mutations shared in Family A and B. (DOCX)</p
<p>List of mutants in histone deacetylases, the mutagenesis strategies, and corresponding TIGR CAG c...
<p>(A) Pedigree of family 2 is indicated. Black and open symbols denote affected and unaffected indi...
<p>Coding mutations in known cancer genes (A) and candidate genes (B) are indicated with different c...
A list of candidate genes harbouring missense mutations with ΔAF > 0.7 in two contrasts ‘RJFs vs. Co...
<p>List of potential pathogenic HNF1A missense mutations predicted by all <i>in silico</i> predictio...
List of genes putatively affected by severe mutations according to the VEP analysis with the corresp...
a<p>These mutationsare considered pathogenic because they could produce alterations in the splicing ...
Cartoon diagrams of RAD52, BRCA2, BRCA1 and PALB2 showing specific domains in each gene. The diagram...
Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel...
<p>The ID and diagnosis of the cases studied as well as the chromosome and position of the mutation ...
<p>Gene mutations common to 3 resistant strains are indicated by boldface.</p><p>Genomic analysis of...
<p>Clinical features of three families carrying pathogenic <i>NOTCH1</i> mutations.</p
Genes that were independently mutated in at least two different populations by Founder gene deletion...
<p>Each row represents a mutated gene and each column represents an individual tumor. Shown in green...
Genes in bold script: highlighted as previously associated with musculoskeletal injury susceptibilit...
<p>List of mutants in histone deacetylases, the mutagenesis strategies, and corresponding TIGR CAG c...
<p>(A) Pedigree of family 2 is indicated. Black and open symbols denote affected and unaffected indi...
<p>Coding mutations in known cancer genes (A) and candidate genes (B) are indicated with different c...
A list of candidate genes harbouring missense mutations with ΔAF > 0.7 in two contrasts ‘RJFs vs. Co...
<p>List of potential pathogenic HNF1A missense mutations predicted by all <i>in silico</i> predictio...
List of genes putatively affected by severe mutations according to the VEP analysis with the corresp...
a<p>These mutationsare considered pathogenic because they could produce alterations in the splicing ...
Cartoon diagrams of RAD52, BRCA2, BRCA1 and PALB2 showing specific domains in each gene. The diagram...
Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel...
<p>The ID and diagnosis of the cases studied as well as the chromosome and position of the mutation ...
<p>Gene mutations common to 3 resistant strains are indicated by boldface.</p><p>Genomic analysis of...
<p>Clinical features of three families carrying pathogenic <i>NOTCH1</i> mutations.</p
Genes that were independently mutated in at least two different populations by Founder gene deletion...
<p>Each row represents a mutated gene and each column represents an individual tumor. Shown in green...
Genes in bold script: highlighted as previously associated with musculoskeletal injury susceptibilit...
<p>List of mutants in histone deacetylases, the mutagenesis strategies, and corresponding TIGR CAG c...
<p>(A) Pedigree of family 2 is indicated. Black and open symbols denote affected and unaffected indi...
<p>Coding mutations in known cancer genes (A) and candidate genes (B) are indicated with different c...
DOI
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