Varaico: Literature-Extracted Genetic Variants

Gene:B4GALT7
Variant:p.R17K
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B4GALT7

NM_007255.3:p.R17K

Associated Papers

Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses.

Hisey EA et al.

Bmc Genomics, 2020

Ruling out BGN variants as simple X-linked causative mutations for bilateral corneal stromal loss in Friesian horses.

Alberi C et al.

Animal Genetics, 2018

Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.

Leegwater PA et al.

Bmc Genomics, 2016

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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."