Varaico: Literature-Extracted Genetic Variants

Gene:INTS6L
Variant:p.I27F
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INTS6L

NM_001351601.3:p.I27F

Associated Papers

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.

Marhabaie M et al.

Cold Spring Harbor Molecular Case Studies, 2021

34667072 (PubMed )
Supplement: supp_mcs.a006122_Supplemental_Material.docx
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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."