Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA2
Variant:p.S88F
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PLEKHA2

NM_021623.2:p.S88F

Associated Papers

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.

Murgiano L et al.

Bmc Veterinary Research, 2016

27919260 (PubMed )
Supplement: 12917_2016_904_MOESM2_ESM.pdf
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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."