Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.V810fs
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SMARCAL1

NM_014140.4:p.V810fs

Associated Papers

Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia.

Gharesouran J et al.

Pathology, Research and Practice, 2024

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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."