Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

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Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

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http://www.wikidata.org/entity/Q42498151

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-my

2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

@en

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

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Item

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Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

@en

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

@nl

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Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

@en

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

@nl

P1476

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

@en

P2093

Chise Kato

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Hiromi Hatsuse

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Katsunori Fujii

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Kazuaki Nagao

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Kentaro Fujii

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Kouzou Kameyama

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Yoshinaga Takayama

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Yuto Arai

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P2860

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Identification of PATCHED mutations in medulloblastomas by direct sequencing

Hedgehog signaling in animal development: paradigms and principles

U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites

Human homolog of patched, a candidate gene for the basal cell nevus syndrome

Listening to silence and understanding nonsense: exonic mutations that affect splicing

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

P2888

s10689-016-9924-2

P304

131-138

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P31

scholarly article

P356

10.1007/S10689-016-9924-2

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P433

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P478

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P50

Toshiyuki Miyashita

P577

2016-08-25T00:00:00Z

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P698

27561271

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