Varaico: Literature-Extracted Genetic Variants

Gene:TSPEAR
Variant:p.S585N
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TSPEAR

NM_144991.3:p.S585N

Associated Papers

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Bowles B et al.

American Journal of Medical Genetics. Part A, 2021

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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."