Publications:

Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.

Frontiers In Endocrinology

Park, Hye-Sun HS; Lee, Yeon Hee YH; Hong, Namki N; Won, Dongju D; Rhee, Yumie Y

Publication Date: 2022

Variant appearance in text: APC: 5378C>G; Ala1793Gly

PubMed Link: 35586626

Variant Present in the following documents:

• Main text
• fendo-13-853171.pdf

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Precision Medicine for Alzheimer's Disease Prevention.

Healthcare (Basel, Switzerland)

Berkowitz, Cara L CL; Mosconi, Lisa L; Scheyer, Olivia O; Rahman, Aneela A; Hristov, Hollie H; Isaacson, Richard S RS

Publication Date: 2018-07-13

Variant appearance in text: APC: A1793G

PubMed Link: 30011822

Variant Present in the following documents:

• Main text
• healthcare-06-00082.pdf

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: APC: A1793G; rs764203580

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

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