Publications:

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Clinical Genetics

Ishida, M M; Cullup, T T; Boustred, C C; James, C C; Docker, J J; English, C C; , ; Lench, N N; Copp, A J AJ; Moore, G E GE; Greene, N D E NDE; Stanier, P P

Publication Date: 2018-04

Variant appearance in text: LRP6: 619C>T; His207Tyr

PubMed Link: 29205322

Variant Present in the following documents:

• CGE-93-870-s003.pdf

View BVdb publication page