Varaico: Literature-Extracted Genetic Variants

Gene:IP6K3
Variant:p.T109M
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IP6K3

NM_054111.5:p.T109M

Associated Papers

Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.

Scimone C et al.

International Journal of Molecular Sciences, 2020

32560555 (PubMed )
Supplement: ijms-21-04321-s001.zip › S2_Selected_Variants.xlsx › AVM1

Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Ma X et al.

Nature Communications, 2015

25790293 (PubMed )
Supplement: ncomms7604-s3.xls › Sheet1

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
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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."