Publications:

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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: D473G

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: 1418A>G; Asp473Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: COMP: D473G

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.

Genes & Diseases

Chen, Jun J; Zhang, Wenbing W; He, Jinzhou J; Zhang, Run R; Cao, Yinqiang Y; Liu, Xing X

Publication Date: 2019-03

Variant appearance in text: COMP: 1418A>G

PubMed Link: 30906833

Variant Present in the following documents:

• Main text
• main.pdf

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Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease.

Frontiers In Pharmacology

Wang, Xu X; Shen, Xiang X; Fang, Fang F; Ding, Chang-Hong CH; Zhang, Hao H; Cao, Zhen-Hua ZH; An, Dong-Yan DY

Publication Date: 2018

Variant appearance in text: COMP: 1418A>G; D473G

PubMed Link: 30687093

Variant Present in the following documents:

• Main text

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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: D473G

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: 1418A>G

PubMed Link: 24595329

Variant Present in the following documents:

• Main text
• ejhg201430a.pdf

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Distribution and effects of nonsense polymorphisms in human genes.

Plos One

Yamaguchi-Kabata, Yumi Y; Shimada, Makoto K MK; Hayakawa, Yosuke Y; Minoshima, Shinsei S; Chakraborty, Ranajit R; Gojobori, Takashi T; Imanishi, Tadashi T

Publication Date: 2008

Variant appearance in text: rs28936669

PubMed Link: 18852891

Variant Present in the following documents:

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Mutations targeting intermodular interfaces or calcium binding destabilize the thrombospondin-2 signature domain.

The Journal Of Biological Chemistry

Carlson, C Britt CB; Gunderson, Kristin A KA; Mosher, Deane F DF

Publication Date: 2008-10-03

Variant appearance in text: PSACH: D473G

PubMed Link: 18682400

Variant Present in the following documents:

• Main text

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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: D473G

PubMed Link: 16186819

Variant Present in the following documents:

• Main text

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