Publications:

A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight

Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2022-01-25

Variant appearance in text: ABCA4: Gly1203Arg

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154.pdf

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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: G1203R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation.

Case Reports In Ophthalmology

Rossi, Settimio S; Testa, Francesco F; Attanasio, Marcella M; Orrico, Ada A; de Benedictis, Antonella A; Corte, Michele Della MD; Simonelli, Francesca F

Publication Date: 2012-09

Variant appearance in text: ABCA4: G1203R

PubMed Link: 23341817

Variant Present in the following documents:

• Main text
• cop-0003-0410.pdf

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