Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A7
Variant:p.K50insFs
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SLC2A7

NM_207420.3:p.K50insFs

Associated Papers

Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome.

Yuan ZZ et al.

Frontiers in Cardiovascular Medicine, 2021

34485408 (PubMed )
Supplement: Data_Sheet_1.xlsx › de_novo
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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."