Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.R588T
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CHSY1

NM_014918.5:p.R588T

Associated Papers

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft.

Zhao H et al.

Protein & Cell, 2024

38695759 (PubMed )
Supplement: pwae021_suppl_supplementary_figures_s1-s10_tables_s1-s2.pdf

Variants in chondroitin sulfate metabolism genes in thrombotic storm.

Nuytemans K et al.

Thrombosis Research, 2018

Integrated genomics approach to identify biologically relevant alterations in fewer samples.

Chandrani P et al.

Bmc Genomics, 2015

26572163 (PubMed )
Supplement: 12864_2015_2138_MOESM2_ESM.zip › Pratik_et_al_SI_TableS6_20150910.xlsx › Sheet1

A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.

Sher G et al.

European Journal of Medical Genetics, 2014

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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."