Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models.
Jay KL, Gogate N, Ezell K, Andrews JC, Jangam SV, Hall PI, Pan H, Pham K, German R, Gomez V, Jellinek-Russo E, Storch E; Brain Gene Registry Consortium, Undiagnosed Diseases Network; Yamamoto S, Kanca O, Bellen HJ, Dierick H, Cogan JD, Phillips JA, Hamid R, Cassini T, Rives L, Posey JE, Wangler MF.
Jay KL, et al. Among authors: phillips ja.
medRxiv [Preprint]. 2024 Sep 28:2024.09.27.24314092. doi: 10.1101/2024.09.27.24314092.
medRxiv. 2024.
PMID: 39399018
Free PMC article.
Preprint.