Publications:

A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: A538D

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Molecular Vision

Roberts, Lisa J LJ; Nossek, Christel A CA; Greenberg, L Jacquie LJ; Ramesar, Rajkumar S RS

Publication Date: 2012

Variant appearance in text: ABCR: Ala538Asp

PubMed Link: 22328824

Variant Present in the following documents:

• Main text
• mv-v18-280.pdf

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ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.

The British Journal Of Ophthalmology

Michaelides, M M; Chen, L L LL; Brantley, M A MA; Andorf, J L JL; Isaak, E M EM; Jenkins, S A SA; Holder, G E GE; Bird, A C AC; Stone, E M EM; Webster, A R AR

Publication Date: 2007-12

Variant appearance in text: ABCA4: Ala538Asp

PubMed Link: 18024811

Variant Present in the following documents:

• Main text

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