|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.
|
28542346 |
2017 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.
|
28570636 |
2017 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
|
28117080 |
2017 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
|
28117080 |
2017 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
|
27627812 |
2016 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
|
27281700 |
2016 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
|
26346198 |
2016 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
|
25307543 |
2015 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
|
25307543 |
2015 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Evidence of digenic inheritance in Alport syndrome.
|
25575550 |
2015 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
|
24033287 |
2014 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Natural history of genetically proven autosomal recessive Alport syndrome.
|
24633401 |
2014 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Natural history of genetically proven autosomal recessive Alport syndrome.
|
24633401 |
2014 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
Biomarker
|
disease |
MGD |
Feasibility of repairing glomerular basement membrane defects in Alport syndrome.
|
24262794 |
2014 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
|
24854265 |
2014 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
|
24854265 |
2014 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.
|
25381091 |
2014 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.
|
23927549 |
2014 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.
|
25514610 |
2014 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
|
24052634 |
2013 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.
|
23297803 |
2013 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
|
24052634 |
2013 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
|
24052634 |
2013 |
|
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.
|
22887978 |
2012 |