Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A14
Variant:p.E172_F173Splc
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SLC22A14

NM_001320033.2:p.E172_F173Splc

Associated Papers

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Lopes-Marques M et al.

Human Genetics, 2024

39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

The novel high-frequency variant of TRPV3 p.A628T in East Asians showing faster sensitization in response to chemical agonists.

Choi SW et al.

Pflugers Archiv : European Journal of Physiology, 2019

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1

Effect of splice-site polymorphisms of the TMPRSS4, NPHP4 and ORCTL4 genes on their mRNA expression.

Yamada H et al.

Journal of Genetics, 2005

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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."