Varaico: Literature-Extracted Genetic Variants

Gene:TPSD1
Variant:p.R94S
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TPSD1

NM_012217.3:p.R94S

Associated Papers

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.

Jelin AC et al.

American Journal of Medical Genetics. Part A, 2024

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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."