Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ABCA4: I2142V; rs769683820

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

The British Journal Of Ophthalmology

Aguirre-Lamban, J J; Riveiro-Alvarez, R R; Maia-Lopes, S S; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Villaverde-Montero, C C; Trujillo-Tiebas, M J MJ; Ramos, C C; Ayuso, C C

Publication Date: 2009-05

Variant appearance in text: ABCA4: Ile2142Val

PubMed Link: 19028736

Variant Present in the following documents:

• Main text
• BJ1-93-05-0614.pdf

View BVdb publication page