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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS6KC1

Variant:p.R747P

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RPS6KC1

NM_001349653.2:p.R747P

hg38:chr1:213242259 G>C

Associated Papers

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Planas-Serra L et al.

American Journal of Human Genetics, 2025

41130203 (PubMed )

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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."