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genomic short read nucleotide alignment program gsnap version 2012-07-20  (Genentech inc)

 
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    Structured Review

    Genentech inc genomic short read nucleotide alignment program gsnap version 2012-07-20
    Affected Individuals Carry a Mutation at the Intronic Border of Exon 43 (A) Sanger sequenced chromatogram of healthy individual II:3 from family TSFDC031 with a normal FLNC gene and an affected individual from the same family (III:1) showing the FLNC c.7251+1 G>A variant. (B) Real-time polymerase chain reaction of ribonucleic acid isolated from lymphoblastoid human cells for exons 41 to 45 spanning probe showing presence of shortened product (missing 116 nucleotides, exon 43) in an affected patient (A-III:1) and normal product in healthy relatives (H-II:3 and H-III:2). (C) Diagram of normal (upper) and aberrant (lower) splicing; thick, solid line (lower) shows exon 43 being excluded. bp = base pair; nt = <t>nucleotide.</t>
    Genomic Short Read Nucleotide Alignment Program Gsnap Version 2012 07 20, supplied by Genentech 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/aligner+program/pmc05166708-33-9-19?v=Genentech+inc
    Average 90 stars, based on 1 article reviews
    genomic short read nucleotide alignment program gsnap version 2012-07-20 - by Bioz Stars, 2026-06
    90/100 stars

    Images

    1) Product Images from "FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy"

    Article Title: FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy

    Journal: JACC: Basic to Translational Science

    doi: 10.1016/j.jacbts.2016.05.004

    Affected Individuals Carry a Mutation at the Intronic Border of Exon 43 (A) Sanger sequenced chromatogram of healthy individual II:3 from family TSFDC031 with a normal FLNC gene and an affected individual from the same family (III:1) showing the FLNC c.7251+1 G>A variant. (B) Real-time polymerase chain reaction of ribonucleic acid isolated from lymphoblastoid human cells for exons 41 to 45 spanning probe showing presence of shortened product (missing 116 nucleotides, exon 43) in an affected patient (A-III:1) and normal product in healthy relatives (H-II:3 and H-III:2). (C) Diagram of normal (upper) and aberrant (lower) splicing; thick, solid line (lower) shows exon 43 being excluded. bp = base pair; nt = nucleotide.
    Figure Legend Snippet: Affected Individuals Carry a Mutation at the Intronic Border of Exon 43 (A) Sanger sequenced chromatogram of healthy individual II:3 from family TSFDC031 with a normal FLNC gene and an affected individual from the same family (III:1) showing the FLNC c.7251+1 G>A variant. (B) Real-time polymerase chain reaction of ribonucleic acid isolated from lymphoblastoid human cells for exons 41 to 45 spanning probe showing presence of shortened product (missing 116 nucleotides, exon 43) in an affected patient (A-III:1) and normal product in healthy relatives (H-II:3 and H-III:2). (C) Diagram of normal (upper) and aberrant (lower) splicing; thick, solid line (lower) shows exon 43 being excluded. bp = base pair; nt = nucleotide.

    Techniques Used: Mutagenesis, Variant Assay, Real-time Polymerase Chain Reaction, Isolation



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