Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.I714Splc
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SMARCAL1

NM_014140.4:p.I714Splc

Associated Papers

Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings

Alavanda C et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children].

Wang W et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

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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."