Varaico: Literature-Extracted Genetic Variants

Gene:FKBP6
Variant:p.R183C
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FKBP6

NM_003602.5:p.R183C

Associated Papers

Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders.

Johnson JL

Frontiers in Molecular Biosciences, 2021

Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family.

Mescheriakova JY et al.

Multiple Sclerosis (houndmills, Basingstoke, England), 2019

Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia.

Westerveld GH et al.

Molecular Human Reproduction, 2005

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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."