Keyphrases
Cerebellar Atrophy
100%
Autosomal Recessive Cerebellar Ataxia
100%
CWF19L1
100%
Pathogenic Variants
42%
Dutch
14%
Damaging Effects
14%
Neurological Disorders
14%
Pathogenicity
14%
Highly Heterogeneous
14%
Sanger Sequencing
14%
Exome Sequencing
14%
Protein Function
14%
Spinal Cord
14%
Negatively Charged
14%
Abnormal Development
14%
Aspartic Acid
14%
Positively Charged
14%
Premature Stop Codon
14%
Histidine
14%
Non-consanguineous
14%
Unknown Function
14%
Rare Genes
14%
Turkish Family
14%
Cerebellum Development
14%
INIS
genes
100%
atrophy
100%
data
33%
patients
33%
proteins
33%
turkey
33%
cerebellum
33%
codons
33%
spinal cord
33%
histidine
33%
aspartic acid
33%
Medicine and Dentistry
Autosomal Recessive Inheritance
100%
Cerebellum Atrophy
100%
Cerebellar Ataxia
100%
Histidine
14%
Neurologic Disease
14%
Protein Function
14%
Prematurity
14%
Sanger Sequencing
14%
Pathogenicity
14%
Aspartic Acid
14%
Developmental Disorder
14%
Exome Sequencing
14%
Cerebellum
14%
Stop Codon
14%
Immunology and Microbiology
Autosomal Recessive Inheritance
100%
Protein Function
14%
Spinal Cord
14%
Whole Exome Sequencing
14%
Cerebellum
14%
Pathogenicity
14%
Stop Codon
14%
Dideoxynucleotide Sequencing
14%
Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
100%
Protein Function
14%
Stop Codon
14%
Exome Sequencing
14%
Aspartic Acid
14%
Histidine
14%
Dideoxynucleotide Sequencing
14%