Varaico: Literature-Extracted Genetic Variants

Gene:TTLL3
Variant:p.E317K
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TTLL3

NM_001387446.1:p.E317K

Associated Papers

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

Genome-wide association study identifies WWC2 as a possible locus associated with persistent pulmonary hypertension of the newborn in the Thai population.

Nakwan N et al.

Translational Pediatrics, 2023

Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Wang M et al.

Respiratory Research, 2020

DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Jung H et al.

Nature Communications, 2019

31537801 (PubMed )
Supplement: 41467_2019_12159_MOESM8_ESM.xlsx › Sheet1
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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."