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Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
Not available
S-EPMC2729838
|
biostudies-literature
Cite
Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.
Not available
S-EPMC4321085
|
biostudies-literature
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Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR.
Not available
S-EPMC5634819
|
biostudies-literature
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Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Not available
S-EPMC4351044
|
biostudies-literature
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CRISPR-SID: Identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping.
Not available
S-EPMC8617425
|
biostudies-literature
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Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
Not available
S-EPMC3326673
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biostudies-literature
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Not available
S-EPMC6752479
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biostudies-literature
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BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Not available
S-EPMC6282814
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biostudies-literature
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BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.
Not available
S-EPMC4647511
|
biostudies-literature
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Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
Not available
S-EPMC8431631
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biostudies-literature
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