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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDK5R2

Variant:p.P30L

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CDK5R2

NM_003936.5:p.P30L

hg38:chr2:218959909 C>T

Associated Papers

Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba.

Espinosa Reyes TM et al.

International Journal of Endocrinology, 2021

33505466 (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."