Varaico: Literature-Extracted Genetic Variants

Gene:SMAD1
Variant:p.V134Splc
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SMAD1

NM_005900.3:p.V134Splc

Associated Papers

Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.

Wongkittichote P et al.

Clinical Genetics, 2023

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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."