Varaico: Literature-Extracted Genetic Variants

Gene:TTLL1
Variant:p.K4E
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TTLL1

NM_012263.5:p.K4E

Associated Papers

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Kanazawa N et al.

Nature Communications, 2021

34819510 (PubMed )
Supplement: 41467_2021_27085_MOESM1_ESM.pdf

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC7_ERR166315
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