Publications:

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: PKD1: 12035G>A; Trp4012*

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

View BVdb publication page

Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

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

Mallawaarachchi, Amali C AC; Furlong, Timothy J TJ; Shine, John J; Harris, Peter C PC; Cowley, Mark J MJ

Publication Date: 2019-06

Variant appearance in text: PKD1: 12035G>A; Trp4012Ter

PubMed Link: 30369598

Variant Present in the following documents:

• Main text

View BVdb publication page