Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT1
Variant:p.E64D
Back to variants list

B3GALT1

NM_020981.4:p.E64D

Associated Papers

Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus.

Labbé C et al.

Plos One, 2015

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

Dorboz I et al.

Orphanet Journal of Rare Diseases, 2014

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1312.477

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Alakus H et al.

Genome Medicine, 2014

24944587 (PubMed )
Supplement: gm559-S3.xls › Table_S4
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."