Varaico: Literature-Extracted Genetic Variants

Gene:SPART
Variant:p.T484fs
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SPART

NM_015087.5:p.T484fs

Associated Papers

Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.

Ramaswamy S et al.

Journal of Personalized Medicine, 2022

35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table3

Three cases of Troyer syndrome in two families of Filipino descent.

Butler S et al.

American Journal of Medical Genetics. Part A, 2016

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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."