'A Variant of Uncertain Significance' and the Proliferation of Human Disease Gene Databases

Human Genomics - United Kingdom
doi 10.1186/1479-7364-2-1-70
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Human Mutation
Genetics
2016English

Cytokine Gene Polymorphism in Human Disease: On-Line Databases

Genes and Immunity
ImmunologyGenetics
1999English

Cytokine Gene Polymorphism in Human Disease: On-Line Databases, Supplement 1

Genes and Immunity
ImmunologyGenetics
2001English

A New Indexing Method for Uncertain Databases

Transactions on Machine Learning and Artificial Intelligence
2018English

Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance

Circulation. Genomic and precision medicine
GeneticsCardiovascular MedicineCardiology
2019English

Renal Globotriaosylceramide Deposits for Fabry Disease Linked to Uncertain Pathogenicity Gene Variant c.352C>T/p.Arg118Cys: A Family Study

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Identification of a Novel Splice Variant of the Human Musashi‑1 Gene

Oncology Letters
Cancer ResearchOncology
2018English

Bradykinin Receptor Gene Variant and Human Physical Performance

Journal of Applied Physiology
MedicinePhysiologySports Science
2004English

A Regulatory Variant of the Human Tryptophan Hydroxylase-2 Gene Biases Amygdala Reactivity

Molecular Psychiatry
PsychiatryMolecular NeuroscienceMental HealthMolecular BiologyCellular
2005English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy