<p>The relative positions of WFS1 mutations within the putative WFS1 protein topology are indicated. Mutations are color-coded according to their mutation categories: mutations with predicted complete loss of function (red), mutations with predicted partial loss of function (blue). Novel mutations are indicated in bold type.</p
<p>Mutations found in type I pseudohypoaldosteronism are in blue and mutations found in cancer are i...
<p><b>A</b>- Prevalence of mutations in desmosomal genes. <b>B-</b> Prevalence of truncating protein...
<p>(<b>a</b>) All coding mutations relative to gene structure, with <i>GRM1</i> exons 1 to 8 shown i...
<p>*Novel mutations are indicated in boldface.</p>§<p>Individual with detectable <i>WFS1</i> mutatio...
<p>Schematic diagram showing the location of the identified mutations in the three encoded proteins....
<p>Protein altering mutations and INDELs, alternative splicing events and validated fusions are show...
Cartoon diagrams of RAD52, BRCA2, BRCA1 and PALB2 showing specific domains in each gene. The diagram...
<p>Mutations identified in our cohort are indicated above the gene; all the mutations previously pub...
<p>(A) The SF162 V2 wildtype sequence and a list of the mutations that were introduced at 13 differe...
(a) Overview of CYP1B1 wild type protein in ribbon-presentation (b-l) In-silico protein prediction r...
<p>(a) Crystal structure (PDB id: 3W4U) depicting a D100Y mutation (on Hbb) at an interface residue ...
(A) Electropherograms of the single base pair deletion within the cDNA of DVL2. (B) Schematic repres...
(A) Diagram of mutational distribution across the SBW25 chromosome for first- and second-step motili...
<p>Heatmaps depict the mutation status of each SWI/SNF subunit gene in each tumor sample, shown for ...
<p>Wild type (WT) KRAS is shown in blue color and the mutant proteins are shown in yellow. The side ...
<p>Mutations found in type I pseudohypoaldosteronism are in blue and mutations found in cancer are i...
<p><b>A</b>- Prevalence of mutations in desmosomal genes. <b>B-</b> Prevalence of truncating protein...
<p>(<b>a</b>) All coding mutations relative to gene structure, with <i>GRM1</i> exons 1 to 8 shown i...
<p>*Novel mutations are indicated in boldface.</p>§<p>Individual with detectable <i>WFS1</i> mutatio...
<p>Schematic diagram showing the location of the identified mutations in the three encoded proteins....
<p>Protein altering mutations and INDELs, alternative splicing events and validated fusions are show...
Cartoon diagrams of RAD52, BRCA2, BRCA1 and PALB2 showing specific domains in each gene. The diagram...
<p>Mutations identified in our cohort are indicated above the gene; all the mutations previously pub...
<p>(A) The SF162 V2 wildtype sequence and a list of the mutations that were introduced at 13 differe...
(a) Overview of CYP1B1 wild type protein in ribbon-presentation (b-l) In-silico protein prediction r...
<p>(a) Crystal structure (PDB id: 3W4U) depicting a D100Y mutation (on Hbb) at an interface residue ...
(A) Electropherograms of the single base pair deletion within the cDNA of DVL2. (B) Schematic repres...
(A) Diagram of mutational distribution across the SBW25 chromosome for first- and second-step motili...
<p>Heatmaps depict the mutation status of each SWI/SNF subunit gene in each tumor sample, shown for ...
<p>Wild type (WT) KRAS is shown in blue color and the mutant proteins are shown in yellow. The side ...
<p>Mutations found in type I pseudohypoaldosteronism are in blue and mutations found in cancer are i...
<p><b>A</b>- Prevalence of mutations in desmosomal genes. <b>B-</b> Prevalence of truncating protein...
<p>(<b>a</b>) All coding mutations relative to gene structure, with <i>GRM1</i> exons 1 to 8 shown i...