Publications:

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.

Molecular Genetics And Genomics : Mgg

Huang, Lin L; Qi, Chang C; Zhu, Gaohong G; Ding, Juanjuan J; Yuan, Li L; Sun, Jie J; He, Xuelian X; Wang, Xiaowen X

Publication Date: 2022-07

Variant appearance in text: PKD1: 9806G>A; R3269Q

PubMed Link: 35612621

Variant Present in the following documents:

• 438_2022_1897_MOESM1_ESM.pdf
• 438_2022_Article_1897.pdf

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One

Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K

Publication Date: 2016

Variant appearance in text: PKD1: 9806G>A; R3269Q

PubMed Link: 27835667

Variant Present in the following documents:

• Main text
• pone.0166288.s008.xls, sheet 1
• pone.0166288.pdf

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