Publications:

Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Plos One

Gu, Ying Y; Lu, Kangmo K; Yang, Guanghui G; Cen, Zhong Z; Yu, Li L; Lin, Lin L; Hao, Jing J; Yang, Zhigang Z; Peng, Jiabao J; Cui, Shujian S; Huang, Jian J

Publication Date: 2014

Variant appearance in text: PAH: 669delC; N223Kfs

PubMed Link: 24705691

Variant Present in the following documents:

• Main text
• pone.0094100.s010.xlsx, sheet 1
• pone.0094100.pdf

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