rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
CausalMutation
|
CLINVAR |
The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience.
|
26428663 |
2016 |
rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.
|
22745357 |
2013 |
rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
CausalMutation
|
CLINVAR |
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients.
|
22592564 |
2013 |
rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.
|
22745357 |
2013 |
rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset.
|
23279339 |
2012 |
rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
CausalMutation
|
CLINVAR |
The hereditary amyloidoses.
|
15123043 |
2003 |
rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.
|
8721565 |
1996 |
rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.
|
8721565 |
1996 |
rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.
|
2046936 |
1991 |
rs121918091
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.
|
2046936 |
1991 |