Publications:

Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: ABCA4: 1099+1G>C

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

International Journal Of Molecular Sciences

Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2018-07-27

Variant appearance in text: ABCA4: 1099+1G>C

PubMed Link: 30060493

Variant Present in the following documents:

• Main text
• ijms-19-02196.pdf

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Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.

Investigative Ophthalmology & Visual Science

Garces, Fabian F; Jiang, Kailun K; Molday, Laurie L LL; Stöhr, Heidi H; Weber, Bernhard H BH; Lyons, Christopher J CJ; Maberley, David D; Molday, Robert S RS

Publication Date: 2018-05-01

Variant appearance in text: ABCA4: 1099+1G>C

PubMed Link: 29847635

Variant Present in the following documents:

• Main text

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