rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
|
22161988 |
2012 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
|
18830229 |
2009 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.
|
11829138 |
2002 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.
|
10874311 |
2000 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
|
10570911 |
1999 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
|
10227394 |
1999 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
|
10533069 |
1999 |
rs397514814
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
|
9328481 |
1997 |