<p>Missense mutations and the resultant phenotypes observed in the families described in the present study.</p
<p>Phenotypes of patients homozygous and/or heterozygous for the p. Ala1003Thr missense mutation rep...
<p>Clinical features of three families carrying pathogenic <i>NOTCH1</i> mutations.</p
A list of candidate genes harbouring missense mutations with ΔAF > 0.7 in two contrasts ‘RJFs vs. Co...
Variants found in the present study and clinical characteristics of the families.</p
<p>For each family, the phenotype, inheritance model, the altered gene, the identified mutation, the...
Potentially causal missense mutations in C. albicans isolates, homozygous mutations in bold.</p
<p><b>A:</b> Pedigree and disease-haplotype segregation of family A. Blackened symbols represent aff...
*<p>: In the genotypes of children, alleles with the mutation were denoted in boldface.</p
<p>Examples of the families and audiograms of the patients with missense mutations after confirmatio...
SummaryThe problem of interpreting missense mutations of disease-causing genes is an increasingly im...
<p>Clinical features of affected family members associated with <i>WFS1</i> mutations found in this ...
<p>doi:10.1371/journal.pone.0078496.t001</p><p>Causative mutations and putatively pathogenic variant...
<p>Examples of the families and audiograms of the patients with missense mutations after confirmatio...
<p>Mutations (including missense point mutations/deletion/insertion) frequencies in 45 genes (737 lo...
<p>Clinical, pathologic and mutational analysis results for the families that mutations were found i...
<p>Phenotypes of patients homozygous and/or heterozygous for the p. Ala1003Thr missense mutation rep...
<p>Clinical features of three families carrying pathogenic <i>NOTCH1</i> mutations.</p
A list of candidate genes harbouring missense mutations with ΔAF > 0.7 in two contrasts ‘RJFs vs. Co...
Variants found in the present study and clinical characteristics of the families.</p
<p>For each family, the phenotype, inheritance model, the altered gene, the identified mutation, the...
Potentially causal missense mutations in C. albicans isolates, homozygous mutations in bold.</p
<p><b>A:</b> Pedigree and disease-haplotype segregation of family A. Blackened symbols represent aff...
*<p>: In the genotypes of children, alleles with the mutation were denoted in boldface.</p
<p>Examples of the families and audiograms of the patients with missense mutations after confirmatio...
SummaryThe problem of interpreting missense mutations of disease-causing genes is an increasingly im...
<p>Clinical features of affected family members associated with <i>WFS1</i> mutations found in this ...
<p>doi:10.1371/journal.pone.0078496.t001</p><p>Causative mutations and putatively pathogenic variant...
<p>Examples of the families and audiograms of the patients with missense mutations after confirmatio...
<p>Mutations (including missense point mutations/deletion/insertion) frequencies in 45 genes (737 lo...
<p>Clinical, pathologic and mutational analysis results for the families that mutations were found i...
<p>Phenotypes of patients homozygous and/or heterozygous for the p. Ala1003Thr missense mutation rep...
<p>Clinical features of three families carrying pathogenic <i>NOTCH1</i> mutations.</p
A list of candidate genes harbouring missense mutations with ΔAF > 0.7 in two contrasts ‘RJFs vs. Co...
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