Publications:

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: 223G>A

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075.pdf

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Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Human Genetics

Ruhno, Corey C; McGovern, Vicki L VL; Avenarius, Matthew R MR; Snyder, Pamela J PJ; Prior, Thomas W TW; Nery, Flavia C FC; Muhtaseb, Abdurrahman A; Roggenbuck, Jennifer S JS; Kissel, John T JT; Sansone, Valeria A VA; Siranosian, Jennifer J JJ; Johnstone, Alec J AJ; Nwe, Pann H PH; Zhang, Ren Z RZ; Swoboda, Kathryn J KJ; Burghes, Arthur H M AHM

Publication Date: 2019-03

Variant appearance in text: SMA: 223G>A

PubMed Link: 30788592

Variant Present in the following documents:

• Main text

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