Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

Item
http://www.wikidata.org/entity/Q33792938
Discovery of variants unmasked by hemizygous deletions.Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomaliesNon-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells.On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGHCFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis.Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.Decoding NF1 Intragenic Copy-Number Variations.Gross chromosomal rearrangement mediated by DNA replication in stressed cells: evidence from Escherichia coli.Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.A novel homozygous complex deletion in CFTR caused cystic fibrosis in a Chinese patient.
P2860

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

Item
http://www.wikidata.org/entity/Q33792938
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2010 nî lūn-bûn
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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Complete ascertainment of intr ...... mation at other autosomal loci
@ast
Complete ascertainment of intr ...... mation at other autosomal loci
@en
type
label
Complete ascertainment of intr ...... mation at other autosomal loci
@ast
Complete ascertainment of intr ...... mation at other autosomal loci
@en
prefLabel
Complete ascertainment of intr ...... mation at other autosomal loci
@ast
Complete ascertainment of intr ...... mation at other autosomal loci
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Complete ascertainment of intr ...... mation at other autosomal loci
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932