Hgmd (human Gene Mutation Database) - Genetic Mutations

Relevant Publications

Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis.

Issue Release: 2024

Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A.

Issue Release: 2024

Novel FOXP2 variant associated with speech and language dysfunction in a Chinese family and literature review.

Issue Release: 2024

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

Issue Release: 2024

Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.

Issue Release: 2024

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

Issue Release: 2024

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.

Issue Release: 2024

Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches.

Issue Release: 2024

A case report of classic galactosemia with a GALT gene variant and a literature review.

Issue Release: 2024

Evaluating the Performance of In silico Tools for PRRT2 Missense Variants.

Issue Release: 2024

A Mutational Hotspot in The Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study.

Issue Release: 2024

Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: lessons for precision medicine.

Issue Release: 2023

[Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum].

Issue Release: 2023

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: implication for MC4R agonist use.

Issue Release: 2023

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.

Issue Release: 2023

Neurodevelopmental Outcomes Prediction in Newborns with Seizures Caused by KCNQ2 Gene Defects.

Issue Release: 2023

Genetic insights into obesity: identification of pathogenic SNPs in gene and their structural molecular dynamics consequences.

Issue Release: 2023

Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.

Issue Release: 2022

NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.

Issue Release: 2022

Distinct sequence features underlie microdeletions and gross deletions in the human genome.

Issue Release: 2022

What Is the Role of Genetics in Cognitive Development?

What is Third Generation Sequencing?

What is the Role of Insertion Mutations in Evolution?

How Do Genetic Mutations Influence ASD?

How Does Hydroxyurea Help in Sickle Cell Disease?

What are Biological Agents that Induce Mutations?

What is Polymerase Chain Reaction (PCR)?

How Do PARP Inhibitors Work?

How Do Nucleotide Mutations Occur?

How Do Mutations Affect Genome Stability?

Partnered Content Networks

Relevant Topics