ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
|
27807845 |
2017 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
|
27807845 |
2017 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.
|
28158450 |
2016 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
|
27666374 |
2016 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
|
27666374 |
2016 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
|
27666370 |
2016 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
|
27666374 |
2016 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
Biomarker
|
disease |
CTD_human |
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
|
27666370 |
2016 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
Biomarker
|
disease |
CTD_human |
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
|
27666374 |
2016 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
|
27666370 |
2016 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|