Varaico: Literature-Extracted Genetic Variants

Gene:CTDSP1
Variant:p.A56T
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CTDSP1

NM_021198.3:p.A56T

Associated Papers

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM6_ESM.xlsx › SD2_-_ExAC_Variants

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2

Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Miller EM et al.

Oncotarget, 2017

29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn

Ethnic divergence and linkage disequilibrium of novel SNPs in the human NLI-IF gene: evidence of human origin and lack of association with tuberculosis susceptibility.

Ma X et al.

Journal of Human Genetics, 2002

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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."