Varaico: Literature-Extracted Genetic Variants

Gene:CEP57
Variant:p.R52C
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CEP57

NM_014679.5:p.R52C

Associated Papers

A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers-Danlos syndrome.

Agrawal P et al.

Oxford Medical Case Reports, 2023

Phosphoproteomic profiling of T cell acute lymphoblastic leukemia reveals targetable kinases and combination treatment strategies.

Cordo' V et al.

Nature Communications, 2022

35217681 (PubMed )
Supplement: 41467_2022_28682_MOESM4_ESM.xlsx › Supplementary_Data_1

Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Staninova-Stojovska M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

[Ehlers-Danlos syndrome. Case reports].

Berni M et al.

La Clinica Pediatrica, 1968

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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."