Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.L608F
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SLC26A2

NM_000112.4:p.L608F

Associated Papers

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.

Silveira C et al.

Molecular Syndromology, 2023

Fetal MR imaging of atelosteogenesis type II (AO-II).

Miller E et al.

Pediatric Radiology, 2008

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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."