Publications:

Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Molecular Genetics & Genomic Medicine

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Matsumoto, Shirou S; Takada, Fumio F; Tsuboi, Kazuya K; Ohtake, Akira A; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-11

Variant appearance in text: GLA: 493G>A; D165N

PubMed Link: 33016649

Variant Present in the following documents:

• Main text
• MGG3-8-e1502.pdf

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Newborn screening for Fabry disease in the western region of Japan.

Molecular Genetics And Metabolism Reports

Sawada, Takaaki T; Kido, Jun J; Yoshida, Shinichiro S; Sugawara, Keishin K; Momosaki, Ken K; Inoue, Takahito T; Tajima, Go G; Sawada, Hirotake H; Mastumoto, Shirou S; Endo, Fumio F; Hirose, Shinichi S; Nakamura, Kimitoshi K

Publication Date: 2020-03

Variant appearance in text: GLA: D165N

PubMed Link: 31956509

Variant Present in the following documents:

• Main text
• main.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: D165N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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