Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GLA: 610T>C; Trp204Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia.

The American Journal Of Case Reports

Tang, Andy Sing Ong ASO; Wong, Qi Ying QY; Pao Lin Ting, Ingrid I; Selvesten, Panting P; Yeo, Siaw Tze ST; Chew, Lee Ping LP; Fam, Tem Lom TL; Tan, Clare Hui Hong CHH

Publication Date: 2021-08-06

Variant appearance in text: GLA: 610T>C; Trp204Arg

PubMed Link: 34354036

Variant Present in the following documents:

• Main text
• amjcaserep-22-e932923.pdf

View BVdb publication page

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: GLA: 610T>C; Trp204Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.

Bmc Medical Genetics

Greillier, Sophie S; Daniel, Laurent L; Caillaud, Catherine C; Dussol, Bertrand B; Touchard, Guy G; Goujon, Jean-Michel JM; Jourde-Chiche, Noémie N; Bobot, Mickaël M

Publication Date: 2020-06-26

Variant appearance in text: GLA: 610T>C; Trp204Arg; rs869312148

PubMed Link: 32590976

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1071.pdf

View BVdb publication page

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: W204R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page