Genes mutated in patients who were reversely phenotyped (based on the genetic findings) are indicated by asterisk. The number of patients with mutations in the different genes is displayed on the right. Black, autosomal recessive. Blue, autosomal dominant. Green, X-linked.</p
Phenotype distribution among males and females with G6PD gene mutation according to WHO classificati...
<p>The heatmap shows genes (rows) and tumors (columns) with mutations (blue). The number of events p...
A) Number of mutated samples by gene according to the described mutation filtering protocol. Only re...
<p>The molecular diagnosis statistics of 99 RP patients: A. The percentage of different types of pat...
Columns represent individual patients, and rows denote specific genes. The bar graph shows the frequ...
<p>(A) Japanese family of MRX214 with Del 312F in <i>GPR37</i>. (B) Caucasian family of AU0654 with ...
<p>A summary chart of all RAS/RAF mutations in each patient group displays genes across in rows and ...
<p>The number of mutated genes in each category is listed for clones from each of the five patients....
<p>A summary chart of all mutations in each group displays genes across in rows and patient tumors d...
<p>Percentages refer to patients with mutations in the respective gene that are considered causative...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
<p>Numerals in each colored box indicate the number of patients. Patients harboring multiple variant...
Cartoon diagrams of RAD52, BRCA2, BRCA1 and PALB2 showing specific domains in each gene. The diagram...
<p>Distribution of Mutations in Reverse Transcriptase region of Polymerase peptide.</p
<p>Genotypes of patients harboring mutations in single autosomal-recessive inherited gene.</p
Phenotype distribution among males and females with G6PD gene mutation according to WHO classificati...
<p>The heatmap shows genes (rows) and tumors (columns) with mutations (blue). The number of events p...
A) Number of mutated samples by gene according to the described mutation filtering protocol. Only re...
<p>The molecular diagnosis statistics of 99 RP patients: A. The percentage of different types of pat...
Columns represent individual patients, and rows denote specific genes. The bar graph shows the frequ...
<p>(A) Japanese family of MRX214 with Del 312F in <i>GPR37</i>. (B) Caucasian family of AU0654 with ...
<p>A summary chart of all RAS/RAF mutations in each patient group displays genes across in rows and ...
<p>The number of mutated genes in each category is listed for clones from each of the five patients....
<p>A summary chart of all mutations in each group displays genes across in rows and patient tumors d...
<p>Percentages refer to patients with mutations in the respective gene that are considered causative...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
<p>Numerals in each colored box indicate the number of patients. Patients harboring multiple variant...
Cartoon diagrams of RAD52, BRCA2, BRCA1 and PALB2 showing specific domains in each gene. The diagram...
<p>Distribution of Mutations in Reverse Transcriptase region of Polymerase peptide.</p
<p>Genotypes of patients harboring mutations in single autosomal-recessive inherited gene.</p
Phenotype distribution among males and females with G6PD gene mutation according to WHO classificati...
<p>The heatmap shows genes (rows) and tumors (columns) with mutations (blue). The number of events p...
A) Number of mutated samples by gene according to the described mutation filtering protocol. Only re...