Varaico: Literature-Extracted Genetic Variants

Gene:EHBP1L1
Variant:p.T454I
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EHBP1L1

NM_001099409.3:p.T454I

Associated Papers

Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.

Wang T et al.

Clinical Case Reports, 2024

38292225 (PubMed )
Supplement: CCR3-12-e8453-s001.xlsx › SNP

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
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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."