Varaico: Literature-Extracted Genetic Variants

Gene:MRPL54
Variant:p.R131Q
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MRPL54

NM_172251.3:p.R131Q

Associated Papers

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions.

Hytönen MK et al.

Human Genetics, 2019

30927068 (PubMed )
Supplement: 439_2019_2005_MOESM3_ESM.xlsx › Sheet1
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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."