Associated Papers
Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.
Qualtieri A et al.
International Journal of Molecular Sciences, 2024
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
Ma K et al.
Biorxiv : the Preprint Server for Biology, 2024
37873263 (PubMed )
Supplement: NIHPP2023.07.12.548370v4-supplement-6.pdf
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
32403337 (PubMed )
Supplement: genes-11-00539-s001.pdf
Germline deletion of ETV6 in familial acute lymphoblastic leukemia.
Rampersaud E et al.
Blood Advances, 2019
A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene.
Mamelona J et al.
Human Genome Variation, 2019
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4
Evidence-based path to newborn screening for Duchenne muscular dystrophy.
Mendell JR et al.
Annals of Neurology, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Brockington M et al.
Human Molecular Genetics, 2001
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