Genetic variants reported as benign in MITOMAP detected in 100 patients tested.</p
<p>Prevalence of mutations in the investigated genes in our cohort of 47 CORD patients.</p
<p>“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.</...
Variants found in the present study and clinical characteristics of the families.</p
<p>In bold is the mutation in CAV1. MAF EVS = Minor allele frequency Exome variant server (all popul...
<p>Pathogenic genetic variants identified in affected individuals with overlapping syndromes.</p
<p>Phenotypic findings in 59 patients from 52 families carrying the p.(Cys759Phe) variant, classifie...
<p>Genetic variations detected in miRNA genes in the initial cohort of 199 HCM patients.</p
It is now affordable to order clinically interpreted whole-genome sequence reports from clinical lab...
<p>Comparison of polymorphic variants frequencies between cancer patients and cancer-free subjects.<...
<p>The molecular diagnosis statistics of 99 RP patients: A. The percentage of different types of pat...
<p>Clinical features and genetic variants identified in patients with unknown diagnoses.</p
Frequency of gene mutations and germline FLT1 allelic variants in all patients and IMDC intermediate...
<p>Variants detected by whole-genome sequencing of 3 animals, including 2 with progressive ataxia.</...
A, General diagnostic rate and frequency of genes harboring pathogenic variants in diagnosed patient...
<div><p>The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequen...
<p>Prevalence of mutations in the investigated genes in our cohort of 47 CORD patients.</p
<p>“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.</...
Variants found in the present study and clinical characteristics of the families.</p
<p>In bold is the mutation in CAV1. MAF EVS = Minor allele frequency Exome variant server (all popul...
<p>Pathogenic genetic variants identified in affected individuals with overlapping syndromes.</p
<p>Phenotypic findings in 59 patients from 52 families carrying the p.(Cys759Phe) variant, classifie...
<p>Genetic variations detected in miRNA genes in the initial cohort of 199 HCM patients.</p
It is now affordable to order clinically interpreted whole-genome sequence reports from clinical lab...
<p>Comparison of polymorphic variants frequencies between cancer patients and cancer-free subjects.<...
<p>The molecular diagnosis statistics of 99 RP patients: A. The percentage of different types of pat...
<p>Clinical features and genetic variants identified in patients with unknown diagnoses.</p
Frequency of gene mutations and germline FLT1 allelic variants in all patients and IMDC intermediate...
<p>Variants detected by whole-genome sequencing of 3 animals, including 2 with progressive ataxia.</...
A, General diagnostic rate and frequency of genes harboring pathogenic variants in diagnosed patient...
<div><p>The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequen...
<p>Prevalence of mutations in the investigated genes in our cohort of 47 CORD patients.</p
<p>“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.</...
Variants found in the present study and clinical characteristics of the families.</p
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