Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis.
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Emerging Role of Genomic Rearrangements in Breast Cancer: Applying Knowledge from Other CancersContribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in HungaryThree novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.Family-Specific Variants and the Limits of Human Genetics.A cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome.Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
P2860
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P2860
Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis.
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2014 nî lūn-bûn
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2014年の論文
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2014年論文
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2014年論文
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name
Deep sequencing with intronic ...... n in a patient with polyposis.
@ast
Deep sequencing with intronic ...... n in a patient with polyposis.
@en
type
label
Deep sequencing with intronic ...... n in a patient with polyposis.
@ast
Deep sequencing with intronic ...... n in a patient with polyposis.
@en
prefLabel
Deep sequencing with intronic ...... n in a patient with polyposis.
@ast
Deep sequencing with intronic ...... n in a patient with polyposis.
@en
P2093
P2860
P356
P1433
P1476
Deep sequencing with intronic ...... n in a patient with polyposis.
@en
P2093
Angela Jacobson
Brian H Shirts
Colin C Pritchard
Judith Martin
Karen Koehler
Robert J Livingston
Shawnia Ryan
Silvia Casadei
Stephen J Salipante
Tatyana Vlaskin
P2860
P2888
P304
P356
10.1038/GIM.2014.30
P407
P577
2014-03-27T00:00:00Z