Keyphrases
Gain-of-function mutation
100%
Telomerase Gene
100%
Somatic Genetics
100%
Genetic Rescue
100%
Short Telomere
100%
RPA1
100%
Telomere Dysfunction
50%
Short Telomere Syndromes
50%
Germ Cells
33%
Hematopoietic Cells
16%
Knock-in Mouse Model
16%
Cas9 Protein
16%
B Cells
16%
Clinical Features
16%
T Cells
16%
DNA Replication
16%
DNA-binding Domain
16%
DNA Repair
16%
Proband
16%
Human Disease
16%
Myelodysplastic Syndrome
16%
Binding Function
16%
Single-stranded DNA (ssDNA)
16%
Hematopoietic Differentiation
16%
Hematopoietic Stem Cells
16%
DNA Binding
16%
Single-stranded DNA-binding Protein
16%
Bone Marrow Failure
16%
Pulmonary Fibrosis
16%
Single-cell RNA Sequencing (scRNA-seq)
16%
Lymphopenia
16%
Telomere Maintenance
16%
Binding Properties
16%
Cellular Systems
16%
Mutant Alleles
16%
Telomere Shortening
16%
Telomeric DNA
16%
Heterogeneous Disorder
16%
Heterozygous Missense Variant
16%
Blood Count
16%
Mutational Effects
16%
Variant Cluster
16%
Skin Manifestations
16%
Inducible Pluripotent Stem Cells
16%
Uniparental Isodisomy
16%
Human Telomere
16%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Gain of Function Mutation
100%
Telomere
100%
Germline
22%
Germ Cell
22%
Hematopoietic Cell
22%
Stem Cell
11%
Wild Type
11%
T Cell
11%
CRISPR/Cas9
11%
Allele
11%
DNA Repair
11%
DNA-binding Domain
11%
Proband
11%
Loss of Function Mutation
11%
B Cell
11%
DNA Binding
11%
Missense
11%
DNA Synthesis
11%
Telomere Homeostasis
11%
Bone Marrow Failure
11%
Blood Cell Count
11%
Telomere Shortening
11%
Uniparental Disomy
11%
DNA-binding Protein
11%
Immunology and Microbiology
Telomere
100%
Gain of Function Mutation
100%
Hematopoietic Cell
22%
DNA Binding
22%
Germ Cell
22%
Wild Type
11%
T Cell
11%
DNA Repair
11%
Allele
11%
B Cell
11%
Loss of Function Mutation
11%
DNA Binding Protein
11%
DNA Synthesis
11%
CRISPR/Cas9
11%
Lymphocytopenia
11%
Blood Cell Count
11%
Pluripotent Stem Cell
11%
Single-Cell Sequencing
11%
Telomere Homeostasis
11%
Telomere Shortening
11%
Uniparental Disomy
11%