Publications:

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: Y88C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Medicina (Kaunas, Lithuania)

Čerkauskaitė, Agnė A; Čerkauskienė, Rimantė R; Miglinas, Marius M; Laurinavičius, Arvydas A; Ding, Can C; Rolfs, Arndt A; Vencevičienė, Lina L; Barysienė, Jūratė J; Kazėnaitė, Edita E; Sadauskienė, Eglė E

Publication Date: 2019-05-07

Variant appearance in text: GLA: Y88C

PubMed Link: 31067829

Variant Present in the following documents:

• medicina-55-00122.pdf

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Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.

Bmc Medical Genetics

Chong, Yosep Y; Kim, Minyoung M; Koh, Eun Sil ES; Shin, Seok Joon SJ; Kim, Ho-Shik HS; Chung, Sungjin S

Publication Date: 2016-10-24

Variant appearance in text: GLA: Tyr88Cys

PubMed Link: 27776503

Variant Present in the following documents:

• Main text

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: GLA: Y88C

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One

Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N

Publication Date: 2016

Variant appearance in text: GLA: 263A>G; Y88C

PubMed Link: 27560961

Variant Present in the following documents:

• Main text
• pone.0161330.pdf

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