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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POMC

Variant:p.L44_E45Splc

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POMC

NM_000939.4:p.L44_E45Splc

hg38:chr2:25161754 T>C

Associated Papers

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

de Carvalho DF et al.

European Journal of Endocrinology, 2016

27185867 (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."