Publications:

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: TBX6: S161S

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 7

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TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.

Orphanet Journal Of Rare Diseases

Sandbacka, Maria M; Laivuori, Hannele H; Freitas, Érika É; Halttunen, Mervi M; Jokimaa, Varpu V; Morin-Papunen, Laure L; Rosenberg, Carla C; Aittomäki, Kristiina K

Publication Date: 2013-08-16

Variant appearance in text: TBX6: Ser161=; rs147485102

PubMed Link: 23954021

Variant Present in the following documents:

• Main text
• 1750-1172-8-125.pdf

View BVdb publication page