Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.N103insFs
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CHP1

NM_007236.5:p.N103insFs

Associated Papers

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Paznekas WA et al.

American Journal of Human Genetics, 1998

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.

Howard TD et al.

Nature Genetics, 1997

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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."