A New Family With a Homozygous Nonsense Variant in NTHL1 Further Delineated the Clinical Phenotype of NTHL1-associated Polyposis

Human Genome Variation - United Kingdom
doi 10.1038/s41439-019-0077-3
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

NTHL1 and MUTYH Polyposis Syndromes: Two Sides of the Same Coin?

Journal of Pathology
Forensic MedicinePathology
2017English

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-Tumor Phenotype

Cancer Cell
Cancer ResearchOncologyCell Biology
2019English

SAT0597 New Autoinflammatory Phenotype Manifesting as Hypocomplementemic Urticarial Vasculitis and Associated With Homozygous Agbl3 Variant

2018English

Correction: A Homozygous KAT2B Variant Modulates the Clinical Phenotype of ADD3 Deficiency in Humans and Flies

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2018English

4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype

American Journal of Medical Genetics, Part A
Genetics
2020English

Identification of an APC Variant in a Patient With Clinical Attenuated Familial Adenomatous Polyposis

Case Reports in Medicine
Medicine
2014English

African American Patients With Chronic Rhinosinusitis Have a Distinct Phenotype of Polyposis Associated With Increased Asthma Hospitalization

Journal of Allergy and Clinical Immunology: In Practice
AllergyImmunology
2016English

New Ocular Phenotype Associated With a Mutation in the PAX2 Gene

Eye
MedicineArtsSensory SystemsOphthalmologyHumanities
2010English

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Clinical Case Reports
Medicine
2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy