Novel Genetic Variants - Genetic Mutations

Relevant Publications

Admixture mapping of cognitive function in diverse Hispanic and Latino adults: Results from the Hispanic Community Health Study/Study of Latinos.

Issue Release: 2024

Allele-specific PCR with fluorescently labeled probes: criteria for selecting primers for genotyping.

Issue Release: 2024

PCCA variant rs16957301 is a novel AKI risk genotype-specific for patients who receive ICI treatment: Real-world evidence from All of Us cohort.

Issue Release: 2024

Mapping of long interspersed element-1 (L1) insertions by TIPseq provides information about sub chromosomal genetic variation in human embryos.

Issue Release: 2024

Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus.

Issue Release: 2024

Online, home-based dystrophic epidermolysis bullosa registry.

Issue Release: 2024

Single-cell multi-omics analysis reveals cooperative transcription factors for gene regulation in oligodendrocytes.

Issue Release: 2024

Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims.

Issue Release: 2024

Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations.

Issue Release: 2024

Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases.

Issue Release: 2024

Resolving haplotype variation and complex genetic architecture in the human immunoglobulin kappa chain locus in individuals of diverse ancestry.

Issue Release: 2024

Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1.

Issue Release: 2024

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Issue Release: 2024

A comprehensive whole genome database of ethnic minority populations.

Issue Release: 2024

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.

Issue Release: 2024

Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.

Issue Release: 2024

Significant Correlation Between Cutaneous Abundance of Streptococcus and Psoriasis Severity in Patients with FBXL19 Gene Variants.

Issue Release: 2024

Opening SCID newborn screening for novel exon genetic variants through whole-exome sequencing in China.

Issue Release: 2024

Genetic variants affecting mitochondrial function provide further insights for kidney disease.

Issue Release: 2024

Trace amine associated receptor 1: predicted effects of single nucleotide variants on structure-function in geographically diverse populations.

Issue Release: 2024

Can Genetic Susceptibility Influence Mutation Risk?

Do Genetic Mutations Always Have Positive Effects?

What Types of Environmental Factors are Involved?

How Are Insertion Mutations Detected?

Why Study CNVs?

How is the Delta F508 Mutation Inherited?

What are Genetic Mutations?

How Do Missense Mutations Occur?

Can Missense Mutations be Treated or Repaired?

How Can Genetic Counseling Help Families Affected by the Delta F508 Mutation?

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