Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.F215S
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CTSD

NM_001909.5:p.F215S

Associated Papers

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Chartier S et al.

Birth Defects Research, 2021

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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."