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2019 ◽  
Vol 76 (1) ◽  
pp. 16-24 ◽  
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Mayssa Abdelwahed ◽  
Ines Maaloul ◽  
Valerie Benoit ◽  
Pascale Hilbert ◽  
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Copy Number Variation ◽  
Copy Number ◽  
Number Variation ◽  
Juvenile Nephronophthisis

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

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Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
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Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

The impact of paralog genes: detection of copy number variation in spinal muscle atrophy patients

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
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Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�
Keyword(s):  
Copy Number Variation ◽  
Muscle Atrophy ◽  
Copy Number ◽  
Number Variation ◽  
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2016 ◽  
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Author(s):  
Ellen Geets ◽  
Doreen Zegers ◽  
Sigri Beckers ◽  
An Verrijken ◽  
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Keyword(s):  
Copy Number Variation ◽  
Mutation Analysis ◽  
Copy Number ◽  
Number Variation
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