rs1283368278
|
Entrez Id: |
6905 |
Gene Symbol: |
TBCE |
TBCE
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
|
27666369 |
2016 |
rs746593718
|
TBCE;B3GALNT2
|
Multiple congenital anomalies
|
CAAAGT |
0.700 |
GeneticVariation |
CLINVAR |
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
|
27666369 |
2016 |
rs1283368278
|
Entrez Id: |
6905 |
Gene Symbol: |
TBCE |
TBCE
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
|
15645691 |
2004 |
rs746593718
|
TBCE;B3GALNT2
|
Multiple congenital anomalies
|
CAAAGT |
0.700 |
GeneticVariation |
CLINVAR |
Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
|
15645691 |
2004 |
rs1283368278
|
Entrez Id: |
6905 |
Gene Symbol: |
TBCE |
TBCE
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
|
12389028 |
2002 |
rs746593718
|
TBCE;B3GALNT2
|
Multiple congenital anomalies
|
CAAAGT |
0.700 |
GeneticVariation |
CLINVAR |
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
|
12389028 |
2002 |
rs1283368278
|
Entrez Id: |
6905 |
Gene Symbol: |
TBCE |
TBCE
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
|
9475091 |
1998 |
rs746593718
|
TBCE;B3GALNT2
|
Multiple congenital anomalies
|
CAAAGT |
0.700 |
GeneticVariation |
CLINVAR |
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
|
9475091 |
1998 |
rs1283368278
|
Entrez Id: |
6905 |
Gene Symbol: |
TBCE |
TBCE
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.
|
7538982 |
1995 |
rs746593718
|
TBCE;B3GALNT2
|
Multiple congenital anomalies
|
CAAAGT |
0.700 |
GeneticVariation |
CLINVAR |
The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.
|
7538982 |
1995 |
rs1283368278
|
Entrez Id: |
6905 |
Gene Symbol: |
TBCE |
TBCE
|
Multiple congenital anomalies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.
|
2001103 |
1991 |
rs746593718
|
TBCE;B3GALNT2
|
Multiple congenital anomalies
|
CAAAGT |
0.700 |
GeneticVariation |
CLINVAR |
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.
|
2001103 |
1991 |