Varaico: Literature-Extracted Genetic Variants

Gene:E2F4
Variant:p.L137S
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E2F4

NM_001950.4:p.L137S

Associated Papers

Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.

Rodríguez-Contreras FJ et al.

American Journal of Medical Genetics. Part A, 2019

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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."