Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.S324insFs
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SMARCAL1

NM_014140.4:p.S324insFs

Associated Papers

Generation of an induced pluripotent stem cell line (SDASi001-A) from a Schimke immune-osseous dysplasia patient with SMARCAL1 mutations.

Wang X et al.

Stem Cell Research, 2023

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.

Gao M et al.

Frontiers in Genetics, 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."