Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
about
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
P2860
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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2017年学术文章
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name
Mapping the genomic landscape ...... coding copy-number variations.
@en
Mapping the genomic landscape ...... coding copy-number variations.
@nl
type
label
Mapping the genomic landscape ...... coding copy-number variations.
@en
Mapping the genomic landscape ...... coding copy-number variations.
@nl
prefLabel
Mapping the genomic landscape ...... coding copy-number variations.
@en
Mapping the genomic landscape ...... coding copy-number variations.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mapping the genomic landscape ...... coding copy-number variations.
@en
P2093
Alexander Aslanidis
Anja Kathrin Mayer
Bart P Leroy
CNV Study Group
Hannah Verdin
Katleen De Preter
Kristof Van Schil
Marcus Karlstetter
Marjolein Carron
Marty G Yang
P2860
P2888
P304
P356
10.1038/GIM.2017.97
P407
P577
2017-07-27T00:00:00Z