Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.I714Splc
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SMARCAL1

NM_014140.4:p.I714Splc

Associated Papers

Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report.

Xiong S et al.

Bmc Nephrology, 2020

Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.

Jin J et al.

Frontiers in Genetics, 2019

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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."