Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.G19Splc
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CHIT1

NM_003465.3:p.G19Splc

Associated Papers

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

Seker Yilmaz B et al.

International Journal of Molecular Sciences, 2020

The Spectrum of Niemann-Pick Type C Disease in Greece.

Mavridou I et al.

Jimd Reports, 2017

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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."