Publications:

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Two Rare Variants in PLAU and BACE1 Genes-Do They Contribute to Semantic Dementia Clinical Phenotype?

Genes

Gaweda-Walerych, Katarzyna K; Sitek, Emilia J EJ; Borczyk, Małgorzata M; Berdyński, Mariusz M; Narożańska, Ewa E; Brockhuis, Bogna B; Korostyński, Michał M; Sławek, Jarosław J; Zekanowski, Cezary C

Publication Date: 2021-11-17

Variant appearance in text: SMN1: Leu228*

PubMed Link: 34828412

Variant Present in the following documents:

• genes-12-01806.pdf

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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: 683T>A; L228*

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075_supplementary_data.pdf
• fcaa075.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: 683T>A; Leu228Ter

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.

Bmc Medical Genetics

Sun, Yingjie Y; Kong, Xiangdong X; Zhao, Zhenhua Z; Zhao, Xuechao X

Publication Date: 2020-06-18

Variant appearance in text: SMA: 683T>A

PubMed Link: 32552676

Variant Present in the following documents:

• 12881_2020_Article_1069.pdf

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Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.

Chinese Medical Journal

Cao, Yan-Yan YY; Zhang, Wen-Hui WH; Qu, Yu-Jin YJ; Bai, Jin-Li JL; Jin, Yu-Wei YW; Wang, Hong H; Song, Fang F

Publication Date: 2018-12-20

Variant appearance in text: SMN1: 683T>A

PubMed Link: 30539904

Variant Present in the following documents:

• CMJ-131-2921.pdf

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How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?

Plos One

Li, Wei W

Publication Date: 2017

Variant appearance in text: SMN1: Leu228X

PubMed Link: 28570645

Variant Present in the following documents:

• pone.0178519.s002.pdf

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Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.

Bmc Medical Genetics

Yu-Jin, Qu Q; Juan, Du D; Er-zhen, Li L; Jin-li, Bai B; Yu-wei, Jin J; Hong, Wang W; Fang, Song S

Publication Date: 2012-09-20

Variant appearance in text: SMA: 683T>A

PubMed Link: 22994313

Variant Present in the following documents:

• Main text
• 1471-2350-13-86.pdf

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Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.

The Journal Of Molecular Diagnostics : Jmd

Zeng, Jian J; Lin, Yanhong Y; Yan, Aizhen A; Ke, Longfeng L; Zhu, Zhongyong Z; Lan, Fenghua F

Publication Date: 2011-01

Variant appearance in text: SMN1: L228X

PubMed Link: 21227393

Variant Present in the following documents:

• Main text

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