Wagner, M. ., Skorobogatko, Y. ., Pode-Shakked, B. ., Powell, C. ., Alhaddad, B. ., Seibt, A. ., … Distelmaier, F. . (2020). Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. American Journal of Human Genetics, 106(2), 246-255. https://doi.org/10.1016/j.ajhg.2020.01.002 (Original work published 2020)
P Lichtner
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P
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Lichtner