Varaico: Literature-Extracted Genetic Variants

Gene:GXYLT1
Variant:p.I220V
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GXYLT1

NM_173601.2:p.I220V

Associated Papers

Next-generation sequencing identifies novel genes with rare variants in total anomalous pulmonary venous connection.

Shi X et al.

Ebiomedicine, 2018

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Li YY et al.

Nature Communications, 2017

28098136 (PubMed )
Supplement: ncomms14121-s5.xlsx › WES_NPC_MAF__N_111_
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