Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.F28delFs
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CHIT1

NM_003465.3:p.F28delFs

Associated Papers

Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.

Sikora J et al.

Annals of Human Genetics, 2003

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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."