Varaico: Literature-Extracted Genetic Variants

Gene:CLTC
Variant:p.D1207_R1208del1
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CLTC

NM_001288653.2:p.D1207_R1208del1

Associated Papers

Intellectual developmental disorder 56 associated with novel variants in the clathrin heavy chain encoding CLTC gene and brief review of the literature.

Kalmár T et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

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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."