Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C)

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Helminths of brown bears (Ursus arctos) in the Kola Peninsula.

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Vitamin E reduces endosulfan-induced toxic effects on morphology and behavior in early development of zebrafish (Danio rerio).

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association·2017

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

European journal of neurology·2016

Selenium prevents downregulation of antioxidant selenoprotein genes by methylmercury.

Free radical biology & medicine·2014

Selenium and mercury have a synergistic negative effect on fish reproduction.

Aquatic toxicology (Amsterdam, Netherlands)·2014

From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to Prognosis.

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Mutation-Immune Crosstalk Contextualizes CAF-Associated ARPC1A Programs and Cisplatin Response in Gastric Cancer.

Human mutation·2026

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.

Human mutation·2026

A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/β-Spectrin Interaction in Hereditary Spherocytosis.

Human mutation·2026

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Human mutation·2026

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

Human mutation·2026

Clinical characteristics and treatment strategies of brainstem lesion in children with neurofibromatosis type 1.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2026

Risk assessment of early-onset sepsis in extremely preterm infants: implications for antibiotic stewardship.

Journal of perinatology : official journal of the California Perinatal Association·2026

Diaphragm ultrasound and lung aeration in small-for-gestational-age versus appropriate-for-gestational-age newborns: a cross-sectional study.

Journal of perinatology : official journal of the California Perinatal Association·2026

Variants of varying clinical consequence (VVCCs) are associated with differing penetrance and expressivity in children with CRMS/CFSPID.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2026

Management and outcomes of paediatric non-parasitic splenic cysts: A multi-centre retrospective cohort study and systematic review.

Journal of pediatric surgery·2026

Tracheopexy for Severe Tracheobronchomalacia in Children with Bronchopulmonary Dysplasia: A Two-Center Study of Patient Characteristics and Outcomes.

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Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C)

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ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

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Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C)

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