Varaico: Literature-Extracted Genetic Variants

Gene:TUBA3D
Variant:p.D392V
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TUBA3D

NM_080386.4:p.D392V

Associated Papers

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5

A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.

Gasparini VR et al.

Blood Cancer Journal, 2020

32321919 (PubMed )
Supplement: 41408_2020_309_MOESM4_ESM.pdf

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L16
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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."