Varaico: Literature-Extracted Genetic Variants

Gene:SBF2
Variant:p.L139M
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SBF2

NM_030962.4:p.L139M

Associated Papers

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.

Zhang W et al.

Frontiers in Pediatrics, 2022

36507129 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table

Clinical and genetic investigation in Chinese patients with demyelinating Charcot-Marie-Tooth disease.

He J et al.

Journal of the Peripheral Nervous System : Jpns, 2018

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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."