Publications:

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: GLA: 1076T>C; Ile359Thr

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Coincidental finding of Fabry's disease in a patient with IgA nephropathy.

Ndt Plus

Kakita, Tomoko T; Nagatoya, Katsuyuki K; Mori, Tatsuhiko T; Kobayashi, Masahisa M; Inoue, Toru T

Publication Date: 2010-10

Variant appearance in text: GLA: I359T

PubMed Link: 25984048

Variant Present in the following documents:

• Main text
• sfq108.pdf

View BVdb publication page