Publications:

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3216147

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Does α-synuclein have a dual and opposing effect in preclinical vs. clinical Parkinson's disease?

Parkinsonism & Related Disorders

Markopoulou, Katerina K; Biernacka, Joanna M JM; Armasu, Sebastian M SM; Anderson, Kari J KJ; Ahlskog, J Eric JE; Chase, Bruce A BA; Chung, Sun Ju SJ; Cunningham, Julie M JM; Farrer, Matthew M; Frigerio, Roberta R; Maraganore, Demetrius M DM

Publication Date: 2014-06

Variant appearance in text: rs3216147

PubMed Link: 24656894

Variant Present in the following documents:

• Main text

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The alpha-synuclein gene in multiple system atrophy.

Journal Of Neurology, Neurosurgery, And Psychiatry

Ozawa, T T; Healy, D G DG; Abou-Sleiman, P M PM; Ahmadi, K R KR; Quinn, N N; Lees, A J AJ; Shaw, K K; Wullner, U U; Berciano, J J; Moller, J C JC; Kamm, C C; Burk, K K; Josephs, K A KA; Barone, P P; Tolosa, E E; Goldstein, D B DB; Wenning, G G; Geser, F F; Holton, J L JL; Gasser, T T; Revesz, T T; Wood, N W NW; ,

Publication Date: 2006-04

Variant appearance in text: rs3216147

PubMed Link: 16543523

Variant Present in the following documents:

• Main text

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