Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SMN1: 5C>G; Ala2Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: SMN1: 5C>G; Ala2Gly

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 2
• pcbi.1010013.s002.xlsx, sheet 4

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The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

International Journal Of Molecular Sciences

Costa-Roger, Mar M; Blasco-Pérez, Laura L; Cuscó, Ivon I; Tizzano, Eduardo F EF

Publication Date: 2021-08-21

Variant appearance in text: SMN1: 5C>G

PubMed Link: 34445733

Variant Present in the following documents:

• Main text
• ijms-22-09029.pdf

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SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.

Frontiers In Neurology

Bowen, B Monica BM; Truty, Rebecca R; Aradhya, Swaroop S; Bristow, Sara L SL; Johnson, Britt A BA; Morales, Ana A; Tan, Christopher A CA; Westbrook, M Jody MJ; Winder, Thomas L TL; Chavez, Juan C JC

Publication Date: 2021

Variant appearance in text: SMN1: Ala2Gly

PubMed Link: 34025568

Variant Present in the following documents:

• Main text
• fneur-12-663911.pdf

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Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument.

Scientific Reports

Jiang, Lingxia L; Lin, Robert R; Gallagher, Steve S; Zayac, Andrew A; Butchbach, Matthew E R MER; Hung, Paul P

Publication Date: 2020-11-16

Variant appearance in text: SMN1: A2G

PubMed Link: 33199817

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 5C>G; A2G

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075_supplementary_data.pdf

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: SMN1: 5C>G; Ala2Gly

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: SMN1: 5C>G; Ala2Gly

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.

Neuromuscular Disorders : Nmd

Stabley, Deborah L DL; Holbrook, Jennifer J; Harris, Ashlee W AW; Swoboda, Kathryn J KJ; Crawford, Thomas O TO; Sol-Church, Katia K; Butchbach, Matthew E R MER

Publication Date: 2017-05

Variant appearance in text: SMN1: A2G

PubMed Link: 28284873

Variant Present in the following documents:

• Main text

View BVdb publication page

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SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.

Molecular Genetics & Genomic Medicine

Stabley, Deborah L DL; Harris, Ashlee W AW; Holbrook, Jennifer J; Chubbs, Nicholas J NJ; Lozo, Kevin W KW; Crawford, Thomas O TO; Swoboda, Kathryn J KJ; Funanage, Vicky L VL; Wang, Wenlan W; Mackenzie, William W; Scavina, Mena M; Sol-Church, Katia K; Butchbach, Matthew E R ME

Publication Date: 2015-07

Variant appearance in text: SMN1: A2G

PubMed Link: 26247043

Variant Present in the following documents:

• Main text
• mgg30003-0248.pdf

View BVdb publication page

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