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: MTHFR: 601C>T; His201Tyr

PubMed Link: 29205322

Variant Present in the following documents:

• Main text
• CGE-93-870.pdf

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Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

Mutation Research

Zhu, Yong Y; Hoffman, Aaron A; Wu, Xifeng X; Zhang, Heping H; Zhang, Yawei Y; Leaderer, Derek D; Zheng, Tongzhang T

Publication Date: 2008-03-01

Variant appearance in text: MTHFR: His201Tyr

PubMed Link: 18191955

Variant Present in the following documents:

• Main text

View BVdb publication page