Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.I819L
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SMC1A

NM_006306.4:p.I819L

Associated Papers

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM et al.

Clinical Epigenetics, 2019

31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S et al.

American Journal of Medical Genetics. Part A, 2017

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.

Enervald E et al.

The Journal of Experimental Medicine, 2013

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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."