广泛的布拉斯科样肾小球静脉畸形合并多指畸形中的球蛋白和脑海绵状畸形2蛋白样突变。 - Suppr

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超能文献

Glomulin and cerebral cavernous malformations 2 protein-like mutations in an extensive blaschkoid glomuvenous malformation with polydactyly.

作者信息

Roso-Mares Andrea, Andújar Perez Isabel, Schairer David O, Sun Bryan K

机构信息

Department of Dermatology, University of California San Diego, San Diego, California.

Faculty of Medicine, Department of Pharmacology, University of Valencia, Valencia, Spain.

出版信息

JAAD Case Rep. 2025 Jul 9;63:139-142. doi: 10.1016/j.jdcr.2025.06.035. eCollection 2025 Sep.

DOI:10.1016/j.jdcr.2025.06.035

PMID:40894452

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12391566/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e7c/12391566/ecd44bd33dd6/gr1.jpg

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Mutat Res Rev Mutat Res. 2022 Jul-Dec;790:108426. doi: 10.1016/j.mrrev.2022.108426. Epub 2022 Jun 9.

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores.使用深度学习衍生的剪接分数提高 CADD-Splice 全基因组变异效应预测。

Genome Med. 2021 Feb 22;13(1):31. doi: 10.1186/s13073-021-00835-9.

Twelve years of SAMtools and BCFtools.SAMtools 和 BCFtools 十二年。

Gigascience. 2021 Feb 16;10(2). doi: 10.1093/gigascience/giab008.

The cerebral cavernous malformation proteins CCM2L and CCM2 prevent the activation of the MAP kinase MEKK3.脑海绵状血管畸形蛋白CCM2L和CCM2可阻止丝裂原活化蛋白激酶MEKK3的激活。

Proc Natl Acad Sci U S A. 2015 Nov 17;112(46):14284-9. doi: 10.1073/pnas.1510495112. Epub 2015 Nov 4.

Genotypes and phenotypes of 162 families with a glomulin mutation.162个携带glomulin突变的家族的基因型和表型。

Mol Syndromol. 2013 Apr;4(4):157-64. doi: 10.1159/000348675. Epub 2013 Mar 26.

Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.体单亲源同二倍体解释了丛状静脉畸形的多灶性。

Am J Hum Genet. 2013 Feb 7;92(2):188-96. doi: 10.1016/j.ajhg.2012.12.017. Epub 2013 Jan 31.

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