Publications:

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

Npj Genomic Medicine

van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; Pérez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J

Publication Date: 2021-09-16

Variant appearance in text: ABCA4: 4724C>T; A1575V

PubMed Link: 34531397

Variant Present in the following documents:

• 41525_2021_238_MOESM1_ESM.pdf

View BVdb publication page