Varaico: Literature-Extracted Genetic Variants

Gene:SF3B2
Variant:p.M1L
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SF3B2

NM_006842.3:p.M1L

Associated Papers

SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.

Del Viso F et al.

American Journal of Medical Genetics. Part A, 2025

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Timberlake AT et al.

Nature Communications, 2021

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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."