single nucleotide polymorphisms database (Broad Institute Inc)
90
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Broad Institute Inc
single nucleotide polymorphisms database
Single Nucleotide Polymorphisms Database, supplied by Broad Institute Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/single+nucleotide+polymorphism+reference+database/single+nucleotide+polymorphisms+database/pm31674661-47-43-40
Average 90 stars, based on 1 article reviews
Single Nucleotide Polymorphisms Database, supplied by Broad Institute Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/single+nucleotide+polymorphism+reference+database/single+nucleotide+polymorphisms+database/pm31674661-47-43-40
Average 90 stars, based on 1 article reviews
single nucleotide polymorphisms database - by Bioz Stars,
2026-11
90/100 stars
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Biomarker Discovery:Article Title: Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease. Article Snippet: Results: Using targeted exome and whole-exome sequencing, we found that eight families had disease-causing variants in the ABCA4 gene, one family had only one heterozygous variant in the ABCA4 gene, and the remaining three families have not been identified with any disease-causing variants for STGD.. We identified 15 variants in the ABCA4 gene; of these, five variants have not been previously described for STGD. Functional Assay:Article Title: Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease. Article Snippet: Results: Using targeted exome and whole-exome sequencing, we found that eight families had disease-causing variants in the ABCA4 gene, one family had only one heterozygous variant in the ABCA4 gene, and the remaining three families have not been identified with any disease-causing variants for STGD.. We identified 15 variants in the ABCA4 gene; of these, five variants have not been previously described for STGD. |