Varaico: Literature-Extracted Genetic Variants

Gene:SPART
Variant:p.Q329_Q336delFs
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SPART

NM_015087.5:p.Q329_Q336delFs

Associated Papers

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Maddirevula S et al.

Genome Biology, 2020

32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM6_ESM.pdf
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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."