Varaico: Literature-Extracted Genetic Variants

Gene:C1QL1
Variant:p.L52_E54Fs
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C1QL1

NM_006688.5:p.L52_E54Fs

Associated Papers

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.

Nicola AG et al.

Diagnostics (basel, Switzerland), 2022

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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."