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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLHL9

Variant:p.C266R

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KLHL9

NM_018847.4:p.C266R

hg38:chr9:21334064 A>G

Associated Papers

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.

Cirak S et al.

Brain : a Journal of Neurology, 2010

20554658 (PubMed )

Distal myopathies.

Pénisson-Besnier I

Revue Neurologique, 0

24008050 (PubMed )

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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."