Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.L300M
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CBL

NM_005188.4:p.L300M

Associated Papers

Genotype-phenotype correlations in a fetus with Kleefstra syndrome.

Wang X et al.

Taiwanese Journal of Obstetrics & Gynecology, 2024

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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."