Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.M1I
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SMARCAL1

NM_014140.4:p.M1I

Associated Papers

Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.

Bertulli C et al.

International Journal of Molecular Sciences, 2020

[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

Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.

Yue Z et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010

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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."