PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

Keyphrases

• Bioinformatics Analysis 100%
• Phenotypic Characteristics 100%
• Gene Variants 100%
• Peptidyl-tRNA Hydrolase 100%
• Missense mutation 25%
• Nonsense mutation 25%
• Multisystem 25%
• Neurologic 25%
• Distal Weakness 25%
• Endocrine Disorders 25%
• Infantile Onset 25%
• Pancreatic Diseases 25%
• Disease Severity 12%
• Genotype 12%
• Arab Community 12%
• Pancreas 12%
• Intellectual Disability 12%
• Clinical Features 12%
• Clinical Characteristics 12%
• Hearing Impairment 12%
• Liver 12%
• Clinical Manifestations 12%
• Autosomal Recessive 12%
• Biallelic mutations 12%
• Type 1 Diabetes Mellitus (T1DM) 12%
• Structural Perspective 12%
• Clinical Spectrum 12%
• Growth Retardation 12%
• Motor Neuropathy 12%
• Hypothyroidism 12%
• Hypoplasia 12%
• Sudden Sensorineural Hearing Loss (SSNHL) 12%
• Loss Function 12%
• Cerebellar Atrophy 12%
• Ataxia 12%
• Extensive Literature Review 12%
• Mitochondrial Proteins 12%
• Neuropathy 12%
• Loss of Stability 12%
• Deformity 12%
• Demyelinating 12%
• Progressive Ataxia 12%
• Microcephaly 12%
• Ankle Contracture 12%
• Global Developmental Delay 12%
• Liver Abnormality 12%
• Motor Delay 12%
• Hand Deformities 12%
• Structural Confirmation 12%

Pharmacology, Toxicology and Pharmaceutical Science

• Transfer RNA 100%
• Hydrolase 100%
• Ataxia 25%
• Pancreas Disease 25%
• Disease Severity 12%
• Diabetes Mellitus 12%
• Hearing Impairment 12%
• Weakness 12%
• Clinical Feature 12%
• Growth Retardation 12%
• Perception Deafness 12%
• Neuropathy 12%
• Autosomal Recessive Disorder 12%
• Mitochondrial Protein 12%
• Developmental Delay 12%
• Intellectual Impairment 12%
• Muscle Weakness 12%
• Cerebellum Atrophy 12%
• Hypoplasia 12%
• Hypothyroidism 12%
• Microcephaly 12%
• Contracture 12%
• Sensorimotor Neuropathy 12%
• Hand Malformation 12%
• Intellectual and Developmental Disabilities 12%

Biochemistry, Genetics and Molecular Biology

• Hydrolase 100%
• Transfer RNA 100%
• Bioinformatics 100%
• Missense Mutation 25%
• Nonsense Mutation 25%
• Enzyme 12%
• Autosomal Recessive Disorder 12%
• Intellectual Disability 12%
• Mitochondrial Protein 12%