Publications:

Genetic Risk in Families with Age-Related Macular Degeneration.

Ophthalmology Science

de Breuk, Anita A; Lechanteur, Yara T E YTE; Heesterbeek, Thomas J TJ; Fauser, Sascha S; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2021-12

Variant appearance in text: CFH: 3133+4C>G

PubMed Link: 36246952

Variant Present in the following documents:

• mmc7.pdf

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: CFH: 3133+4C>G

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 27

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