Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.L116del1
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KCTD7

NM_153033.5:p.L116del1

Associated Papers

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins.

Kollmann K et al.

Biochimica Et Biophysica Acta, 2013

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Cadieux-Dion M et al.

Clinical Genetics, 2013

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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."