Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.D177D
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SLC26A2

NM_000112.4:p.D177D

Associated Papers

A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.

Maeda K et al.

American Journal of Medical Genetics. Part A, 2006

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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."