Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

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http://www.wikidata.org/entity/Q35086962
Role of an SNP in Alternative Splicing of Bovine NCF4 and Mastitis SusceptibilityA unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.A targeted genome association study examining transient receptor potential ion channels, acetylcholine receptors, and adrenergic receptors in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis.Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.Deep intronic mutations and human disease.mRNA processing in mutant zebrafish lines generated by chemical and CRISPR-mediated mutagenesis produces unexpected transcripts that escape nonsense-mediated decay.Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.Systematic pan-cancer analysis of somatic allele frequency.A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.
P2860

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

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http://www.wikidata.org/entity/Q35086962
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2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
name
Interpretation of mRNA splicin ...... ormation-theoretical analysis.
@ast
Interpretation of mRNA splicin ...... ormation-theoretical analysis.
@en
type
label
Interpretation of mRNA splicin ...... ormation-theoretical analysis.
@ast
Interpretation of mRNA splicin ...... ormation-theoretical analysis.
@en
prefLabel
Interpretation of mRNA splicin ...... ormation-theoretical analysis.
@ast
Interpretation of mRNA splicin ...... ormation-theoretical analysis.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Interpretation of mRNA splicin ...... ormation-theoretical analysis.
@en
P2093
P2860
P304
P31
P356
10.12688/F1000RESEARCH.5654.1
P478
P50
P577
P5875
P698
P932