Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.I88insFs
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RPS6KA3

NM_004586.3:p.I88insFs

Associated Papers

A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.

Siu LL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40875525 (PubMed )
Supplement: ccr-25-1648_supplementary_table_s5_suppts5.xlsx › Sheet1

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

Nishimoto HK et al.

American Journal of Medical Genetics. Part A, 2014

RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

Nakamura M et al.

Brain & Development, 2005

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Zeniou M et al.

American Journal of Human Genetics, 2002

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

Jurkiewicz D et al.

European Journal of Medical Genetics, 0

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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."