Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

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Genome annotation for clinical genomic diagnostics: strengths and weaknesses

P2860

Q33737782-021F2D76-AA0D-414B-9315-DF94E4AEB2C2

P2860

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Item

http://www.wikidata.org/entity/Q41643440

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Nonrecurrent PMP22-RAI1 contig ...... evident peripheral neuropathy.

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type

Item

label

Nonrecurrent PMP22-RAI1 contig ...... evident peripheral neuropathy.

@en

prefLabel

Nonrecurrent PMP22-RAI1 contig ...... evident peripheral neuropathy.

@en

P1476

Nonrecurrent PMP22-RAI1 contig ...... evident peripheral neuropathy

@en

P2093

Bo Yuan

http://www.w3.org/2001/XMLSchema#string

James R Lupski

http://www.w3.org/2001/XMLSchema#string

Juanita Neira

http://www.w3.org/2001/XMLSchema#string

Lorraine Potocki

http://www.w3.org/2001/XMLSchema#string

Pengfei Liu

http://www.w3.org/2001/XMLSchema#string

Sarah H Elsea

http://www.w3.org/2001/XMLSchema#string

Tamar Harel

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P2860

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P2888

s00439-016-1703-5

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1161-1174

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scholarly article

P356

10.1007/S00439-016-1703-5

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P433

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P478

135

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P50

Ignacio Briceño

Alberto Gómez

Shen Gu

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2016-07-07T00:00:00Z

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1024101852

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27386852

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5021589

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Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

about

P2860

P2860

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P932