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A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation

Human Genetics

Nov 5, 2019

Fernanda Gutierrez-RodriguesMarie Louise Coussa

Abstract

Phenotypic heterogeneity is often observed in patients with telomeropathies caused by pathogenic variants in telomere biology genes. However, the roles of recessive variants in these different phenotypes are not fully characterized. Our goal is to describe the biological roles of a nove...read more

Mentioned in this Paper

Telomere Recombination
Lebanese Race
Whole Exome Sequencing
Gene Mutant
Genetic Screening Method
Telomere
RTEL1
Protein Expression
Genes
Objective (Goal)
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A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation

Human Genetics

Nov 5, 2019

Fernanda Gutierrez-RodriguesMarie Louise Coussa

PMID: 31677132

DOI: 10.1007/s00439-019-02076-8

Abstract

Phenotypic heterogeneity is often observed in patients with telomeropathies caused by pathogenic variants in telomere biology genes. However, the roles of recessive variants in these different phenotypes are not fully characterized. Our goal is to describe the biological roles of a nove...read more

Mentioned in this Paper

Telomere Recombination
Lebanese Race
Whole Exome Sequencing
Gene Mutant
Genetic Screening Method
Telomere
RTEL1
Protein Expression
Genes
Objective (Goal)

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Paper Details
References
  • References30
  • Citations
123
  • References30
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  • quote and clock

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