<p>categories of gene mutations in CTEPH patients and PE without PH patients.</p
Allele frequencies of studied PAH mutations in patients with phenylketonuria from Russia.</p
<p>Distribution of nonsynonymous mutations of 7 pulmonary arterial hypertension-causing genes in chr...
<p>Pedigrees, mutations, and audiograms of the patients with homozygous <i>CDH23</i> mutations.</p
<p>Comparison of clinical characteristics of CTEPH patients in nonsynonymous mutation carriers and n...
Proportion of pathogenic mutations detected in BRCA1/2 and non-BRCA1/2 genes.</p
<p>Epidermal growth factor receptor (EGFR) mutation spectrum among patients with EGFR-mutant lung ad...
Distribution of mutations according to their functional category among the validation cohort.</p
Mutations detected in the ATP7B gene in Wilson disease patients during present study.</p
<p>Mutations which are classified as definitely pathogenic in humans that are found to be fixed in o...
<p>Non-synonymous amino acid mutations that distinguish the KW DENV-1 strain.</p
<p>Clinical Characteristics and Detected Deleterious Mutations in Each Patient Pair.</p
List of genes putatively affected by severe mutations according to the VEP analysis with the corresp...
<p>Comparison of clinical Characteristics of patients with or without known driver mutations.</p
<p>* Genes in bold are recurrent mutations, with the number in parentheses being the other samples h...
<p>Genotypes of patients harboring mutations in single autosomal-recessive inherited gene.</p
Allele frequencies of studied PAH mutations in patients with phenylketonuria from Russia.</p
<p>Distribution of nonsynonymous mutations of 7 pulmonary arterial hypertension-causing genes in chr...
<p>Pedigrees, mutations, and audiograms of the patients with homozygous <i>CDH23</i> mutations.</p
<p>Comparison of clinical characteristics of CTEPH patients in nonsynonymous mutation carriers and n...
Proportion of pathogenic mutations detected in BRCA1/2 and non-BRCA1/2 genes.</p
<p>Epidermal growth factor receptor (EGFR) mutation spectrum among patients with EGFR-mutant lung ad...
Distribution of mutations according to their functional category among the validation cohort.</p
Mutations detected in the ATP7B gene in Wilson disease patients during present study.</p
<p>Mutations which are classified as definitely pathogenic in humans that are found to be fixed in o...
<p>Non-synonymous amino acid mutations that distinguish the KW DENV-1 strain.</p
<p>Clinical Characteristics and Detected Deleterious Mutations in Each Patient Pair.</p
List of genes putatively affected by severe mutations according to the VEP analysis with the corresp...
<p>Comparison of clinical Characteristics of patients with or without known driver mutations.</p
<p>* Genes in bold are recurrent mutations, with the number in parentheses being the other samples h...
<p>Genotypes of patients harboring mutations in single autosomal-recessive inherited gene.</p
Allele frequencies of studied PAH mutations in patients with phenylketonuria from Russia.</p
<p>Distribution of nonsynonymous mutations of 7 pulmonary arterial hypertension-causing genes in chr...
<p>Pedigrees, mutations, and audiograms of the patients with homozygous <i>CDH23</i> mutations.</p
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