Publications:

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K

Publication Date: 2021-09-27

Variant appearance in text: GLA: R112L

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: R112L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Elucidating the genomic architecture of Asian EGFR-mutant lung adenocarcinoma through multi-region exome sequencing.

Nature Communications

Nahar, Rahul R; Zhai, Weiwei W; Zhang, Tong T; Takano, Angela A; Khng, Alexis J AJ; Lee, Yin Yeng YY; Liu, Xingliang X; Lim, Chong Hee CH; Koh, Tina P T TPT; Aung, Zaw Win ZW; Lim, Tony Kiat Hon TKH; Veeravalli, Lavanya L; Yuan, Ju J; Teo, Audrey S M ASM; Chan, Cheryl X CX; Poh, Huay Mei HM; Chua, Ivan M L IML; Liew, Audrey Ann AA; Lau, Dawn Ping Xi DPX; Kwang, Xue Lin XL; Toh, Chee Keong CK; Lim, Wan-Teck WT; Lim, Bing B; Tam, Wai Leong WL; Tan, Eng-Huat EH; Hillmer, Axel M AM; Tan, Daniel S W DSW

Publication Date: 2018-01-15

Variant appearance in text: GLA: R112L

PubMed Link: 29335443

Variant Present in the following documents:

• 41467_2017_2584_MOESM3_ESM.xlsx, sheet 1
• 41467_2017_2584_MOESM4_ESM.xlsx, sheet 17

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A novel mutation and in vivo confocal microscopic findings in Fabry disease.

Saudi Journal Of Ophthalmology : Official Journal Of The Saudi Ophthalmological Society

Degirmenci, Cumali C; Yilmaz, Suzan Guven SG; Onay, Huseyin H; Palamar, Melis M; Ucar, Sema Kalkan SK; Kayikcioglu, Meral M; Coker, Mahmut M

Publication Date: 2017

Variant appearance in text: GLA: R112L

PubMed Link: 28337063

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page