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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FHL1

Variant:p.K122N

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FHL1

NM_001159699.2:p.K122N

hg38:chrX:136207177 G>C

Associated Papers

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.

Chen DH et al.

Journal of the Neurological Sciences, 2010

20633900 (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."