Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.G655D
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SMC3

NM_005445.4:p.G655D

Associated Papers

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Kaur M et al.

American Journal of Medical Genetics. Part A, 2023

Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation.

Cocciardi S et al.

Nature Communications, 2019

31048683 (PubMed )
Supplement: 41467_2019_9745_MOESM4_ESM.xlsx › Tabelle1

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

Martínez F et al.

Journal of Medical Genetics, 2017

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