Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A6OS
Variant:p.G45D
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SLC7A6OS

NM_032178.3:p.G45D

Associated Papers

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report.

Makhmetov S et al.

Heliyon, 2025

39834405 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.

Aguayo-Gómez A et al.

Plos One, 2024

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders.

Deng L et al.

National Science Review, 2019

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.

Duan J et al.

Scientific Reports, 2013

23422947 (PubMed )
Supplement: srep01318-s2.xls › S7
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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."