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: BRAF: 1442C>A; Ala481Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: BRAF: A481E

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: rs397516892

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome.

Iranian Journal Of Pediatrics

Hazan, Filiz F; Karaca, Emin E; Koker, Sultan Aydin SA; Korkmaz, Huseyin Anil HA; Mese, Timur T; Onay, Huseyin H; Ozkinay, Ferda F

Publication Date: 2013-10

Variant appearance in text: BRAF: 1442C>A; A481E

PubMed Link: 24800029

Variant Present in the following documents:

• Main text

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Severe hemolytic disease of the newborn caused by anti-m antibodies.

Iranian Journal Of Pediatrics

Duro, Eduardo Alfredo EA; Desalvo, Liliana L; Kuret, Sandra S

Publication Date: 2013-10

Variant appearance in text: BRAF: 1442C>A

PubMed Link: 24800028

Variant Present in the following documents:

• IJPD-23-607.pdf

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