Publications:

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.

Genes

Niba, Emma Tabe Eko ETE; Nishio, Hisahide H; Wijaya, Yogik Onky Silvana YOS; Ar Rochmah, Mawaddah M; Takarada, Toru T; Takeuchi, Atsuko A; Kimizu, Tomokazu T; Okamoto, Kentaro K; Saito, Toshio T; Awano, Hiroyuki H; Takeshima, Yasuhiro Y; Shinohara, Masakazu M

Publication Date: 2022-01-24

Variant appearance in text: SMN1: T274Y

PubMed Link: 35205250

Variant Present in the following documents:

• genes-13-00205.pdf

View BVdb publication page

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Brain Communications

Wadman, Renske I RI; Jansen, Marc D MD; Stam, Marloes M; Wijngaarde, Camiel A CA; Curial, Chantall A D CAD; Medic, Jelena J; Sodaar, Peter P; Schouten, Jan J; Vijzelaar, Raymon R; Lemmink, Henny H HH; van den Berg, Leonard H LH; Groen, Ewout J N EJN; van der Pol, W Ludo WL

Publication Date: 2020

Variant appearance in text: SMN1: T274Y

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075_supplementary_data.pdf

View BVdb publication page