Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa

Abstract Background This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP). Methods In total, 76 families with syndromic or nonsyndromic RP, diagnosed on the basis of clinical manifestations, were recruited for this stu...

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Xehetasun bibliografikoak

Egile Nagusiak:	Handong Dan, Xin Huang, Yiqiao Xing, Yin Shen
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Wiley 2020-03-01
Saila:	Molecular Genetics & Genomic Medicine
Gaiak:	gene variant next‐generation sequencing retinitis pigmentosa targeted panels sequencing whole exome sequencing
Sarrera elektronikoa:	https://doi.org/10.1002/mgg3.1131
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