Varaico: Literature-Extracted Genetic Variants

Gene:GXYLT1
Variant:p.K234R
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GXYLT1

NM_173601.2:p.K234R

Associated Papers

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Smyk M et al.

Genes, 2023

36980952 (PubMed )
Supplement: genes-14-00680-s001.zip › Supplementary_Table_S5.xlsx › Arkusz1

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

Analysis of clinical characteristics and genetic testing in patients with acute fatty liver of pregnancy: a retrospective study.

Shi Y et al.

Bmc Pregnancy and Childbirth, 2021

34496798 (PubMed )
Supplement: 12884_2021_4095_MOESM3_ESM.xlsx › PASS_annova

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp003.xlsx › Supp_Table_5_-_mutations
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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."