Varaico: Literature-Extracted Genetic Variants

Gene:SAP30BP
Variant:p.N90D
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SAP30BP

NM_013260.8:p.N90D

Associated Papers

Identification of a novel mutation (A268G) in exon 8 of the HTR beta gene in a large family with thyroid hormone resistance.

Jézéquel P et al.

Human Mutation, 1996

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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."