Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R790W
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SMC1A

NM_006306.4:p.R790W

Associated Papers

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.

Gil-Salvador M et al.

Scientific Reports, 2025

Genomic Analysis of Korean Patient With Microcephaly.

Lee J et al.

Frontiers in Genetics, 2020

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S et al.

American Journal of Medical Genetics. Part A, 2017

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Lebrun N et al.

American Journal of Medical Genetics. Part A, 2015

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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."