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Publications by Valentina Fumini
The Arg1038Gly Missense Variant in the NF1 Gene Causes a Mild Phenotype Without Neurofibromas
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Related publications
Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene
Frontiers in Physiology
Physiology
A Patient Severely Affected by Spinal Neurofibromas Carries a Recurrent Splice Site Mutation in the NF1 Gene
European Journal of Human Genetics
Genetics
Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients With Neurofibromatosis Type 1
American Journal of Human Genetics
Genetics
Equivalent Missense Variant in the FOXP2 and FOXP1 Transcription Factors Causes Distinct Neurodevelopmental Disorders
Human Mutation
Genetics
Neurofibromas in NF1: Schwann Cell Origin and Role of Tumor Environment
Science
Multidisciplinary
Philosophy of Science
History
Quick and Sustained Clinical Response to MEK Inhibitor I in a NF1 Patient With Neurofibromas
ecancermedicalscience
Cancer Research
Oncology
Repression of the NF1 Gene by Tax May Expain the Development of Neurofibromas in Human T-Lymphotropic Virus Type 1 Transgenic Mice.
Journal of Virology
Insect Science
Immunology
Microbiology
Virology
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
A Missense Mutation, p.V132G, in the X-Linked Spermine Synthase Gene (SMS) Causes Snyder-Robinson Syndrome
American Journal of Medical Genetics, Part A
Genetics
