Varaico: Literature-Extracted Genetic Variants

Gene:CYFIP2
Variant:p.S279_N280insC
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CYFIP2

NM_001037333.3:p.S279_N280insC

Associated Papers

Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder.

Thongnak C et al.

International Journal of Genomics, 2018

Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Gu Q et al.

Oncotarget, 2015

26062443 (PubMed )
Supplement: oncotarget-06-20160-s004.xlsx › Sheet1

Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Thareja G et al.

Bmc Genomics, 2015

25765185 (PubMed )
Supplement: 12864_2015_1233_MOESM6_ESM.xlsx › Table_S3

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T et al.

Plos One, 2013

24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s009.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."