Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2B
Variant:p.R114C
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CDKN2B

NM_004936.4:p.R114C

Associated Papers

Phenotype Spectrum of TRPM3-Associated Disorders.

Jolitz L et al.

Annals of Neurology, 2025

39749750 (PubMed )
Supplement: ANA-97-561-s001.docx

Analysis of the entire mitochondrial genome reveals Leber's hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis.

Al-Kafaji G et al.

Scientific Reports, 2022

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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."