Publications:

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Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.

Biomolecules

Rochoux, Quitterie Q; Sopkova-de Oliveira Santos, Jana J; Marcelli, Christian C; Rovelet-Lecrux, Anne A; Chevallier, Virginie V; Dutheil, Jean-Jacques JJ; Leclercq, Sylvain S; Boumédiene, Karim K; Baugé, Catherine C; Aury-Landas, Juliette J

Publication Date: 2021-10-05

Variant appearance in text: COMP: 1358A>G

PubMed Link: 34680093

Variant Present in the following documents:

• Main text
• biomolecules-11-01460.pdf

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A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.

Biomed Research International

Guo, Bing-Bing BB; Jin, Jie-Yuan JY; Yuan, Zhuang-Zhuang ZZ; Zeng, Lei L; Xiang, Rong R

Publication Date: 2021

Variant appearance in text: COMP: N453S

PubMed Link: 33748277

Variant Present in the following documents:

• BMRI2021-6678531.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: COMP: 1358A>G; Asn453Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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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: COMP: N453S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.

European Journal Of Human Genetics : Ejhg

Briggs, Michael D MD; Brock, Joanne J; Ramsden, Simon C SC; Bell, Peter A PA

Publication Date: 2014-11

Variant appearance in text: PSACH: 1358A>G

PubMed Link: 24595329

Variant Present in the following documents:

View BVdb publication page

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Structure of the calcium-rich signature domain of human thrombospondin-2.

Nature Structural & Molecular Biology

Carlson, C Britt CB; Bernstein, Douglas A DA; Annis, Douglas S DS; Misenheimer, Tina M TM; Hannah, Blue-leaf A BL; Mosher, Deane F DF; Keck, James L JL

Publication Date: 2005-10

Variant appearance in text: PSACH: N453S

PubMed Link: 16186819

Variant Present in the following documents:

• Main text

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