Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.Q253H
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SALL1

NM_002968.3:p.Q253H

Associated Papers

First Application of Whole Genome Sequencing in Myelinated Retinal Nerve Fibers (MRNF).

Scott Sills E et al.

Physiological Research, 2024

Five-Year Assessment of Multiple Gene Variants Associated with Bone Marrow Hypocellularity, Reduced Bone Density, and Ovarian Insufficiency in Adolescence.

Sills ES et al.

Journal of Bone Metabolism, 2022

Covid-19 and adolescent acute kidney injury: Renal recovery with combined enalapril and estrogen therapy.

Sills ES et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022

Phenotype from SAMD9 Mutation at 7p21.2 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1.

Sills ES et al.

Global Medical 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."