Publications:

Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.

International Journal Of Molecular Sciences

Ohkawara, Bisei B; Ito, Mikako M; Ohno, Kinji K

Publication Date: 2021-02-28

Variant appearance in text: CLSS: L473F

PubMed Link: 33671084

Variant Present in the following documents:

• Main text
• ijms-22-02455.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LRP4: L473F

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LRP4: L473F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

American Journal Of Human Genetics

Li, Yun Y; Pawlik, Barbara B; Elcioglu, Nursel N; Aglan, Mona M; Kayserili, Hülya H; Yigit, Gökhan G; Percin, Ferda F; Goodman, Frances F; Nürnberg, Gudrun G; Cenani, Asim A; Urquhart, Jill J; Chung, Boi-Dinh BD; Ismail, Samira S; Amr, Khalda K; Aslanger, Ayca D AD; Becker, Christian C; Netzer, Christian C; Scambler, Pete P; Eyaid, Wafaa W; Hamamy, Hanan H; Clayton-Smith, Jill J; Hennekam, Raoul R; Nürnberg, Peter P; Herz, Joachim J; Temtamy, Samia A SA; Wollnik, Bernd B

Publication Date: 2010-05-14

Variant appearance in text: LRP4: 1417C>T; L473F

PubMed Link: 20381006

Variant Present in the following documents:

• Main text

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