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: Leu296Cysfs*4

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154.pdf

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Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: Implications for therapeutic clinical trials.

Ophthalmic Genetics

Dedania, Vaidehi S VS; Liu, Jerry Y JY; Schlegel, Dana D; Andrews, Chris A CA; Branham, Kari K; Khan, Naheed W NW; Musch, David C DC; Heckenlively, John R JR; Jayasundera, K Thiran KT

Publication Date: 2018

Variant appearance in text: ABCA4: Leu296Cysfs

PubMed Link: 28704108

Variant Present in the following documents:

• Main text

View BVdb publication page