Publications:

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: RYR1: 11763C>A; rs377178986

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs377178986

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

American Journal Of Human Genetics

Chong, Jessica X JX; McMillin, Margaret J MJ; Shively, Kathryn M KM; Beck, Anita E AE; Marvin, Colby T CT; Armenteros, Jose R JR; Buckingham, Kati J KJ; Nkinsi, Naomi T NT; Boyle, Evan A EA; Berry, Margaret N MN; Bocian, Maureen M; Foulds, Nicola N; Uzielli, Maria Luisa Giovannucci ML; Haldeman-Englert, Chad C; Hennekam, Raoul C M RC; Kaplan, Paige P; Kline, Antonie D AD; Mercer, Catherine L CL; Nowaczyk, Malgorzata J M MJ; Klein Wassink-Ruiter, Jolien S JS; McPherson, Elizabeth W EW; Moreno, Regina A RA; Scheuerle, Angela E AE; Shashi, Vandana V; Stevens, Cathy A CA; Carey, John C JC; Monteil, Arnaud A; Lory, Philippe P; Tabor, Holly K HK; Smith, Joshua D JD; Shendure, Jay J; Nickerson, Deborah A DA; , ; Bamshad, Michael J MJ

Publication Date: 2015-03-05

Variant appearance in text: RYR1: 11763C>A; Tyr3921Ter

PubMed Link: 25683120

Variant Present in the following documents:

• Main text

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Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet Journal Of Rare Diseases

Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ

Publication Date: 2013-08-06

Variant appearance in text: RYR1: 11763C>A; Tyr3921X

PubMed Link: 23919265

Variant Present in the following documents:

• 1750-1172-8-117-S1.xlsx, sheet 2

View BVdb publication page