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LRP4 c.2858T>C ;(p.L953P)
Variant ID: 11-46900823-A-G
NM_002334.3(
LRP4
):c.2858T>C;(p.L953P)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: L953P
PubMed Link:
33671084
Variant Present in the following documents:
Main text
ijms-22-02455.pdf
View BVdb publication page
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
Human Mutation
Sukenik Halevy, Rivka R; Chien, Huan-Chieh HC; Heinz, Bo B; Bamshad, Michael J MJ; Nickerson, Deborah A DA; , ; Kircher, Martin M; Ahituv, Nadav N
Publication Date: 2018-06
Variant appearance in text: LRP4: L953P
PubMed Link:
29524275
Variant Present in the following documents:
Main text
View BVdb publication page
Osteoblastic Lrp4 promotes osteoclastogenesis by regulating ATP release and adenosine-A2AR signaling.
The Journal Of Cell Biology
Xiong, Lei L; Jung, Ji-Ung JU; Guo, Hao-Han HH; Pan, Jin-Xiu JX; Sun, Xiang-Dong XD; Mei, Lin L; Xiong, Wen-Cheng WC
Publication Date: 2017-03-06
Variant appearance in text: LRP4: L953P
PubMed Link:
28193701
Variant Present in the following documents:
JCB_201608002.pdf
View BVdb publication page
Advances in the Molecular Genetics of Non-syndromic Syndactyly.
Current Genomics
Deng, Hao H; Tan, Ting T
Publication Date: 2015-06
Variant appearance in text: LRP4: L953P
PubMed Link:
26069458
Variant Present in the following documents:
Main text
CG-16-183.pdf
View BVdb publication page