Varaico: Literature-Extracted Genetic Variants

Gene:SHTN1
Variant:p.R483H
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SHTN1

NM_001127211.3:p.R483H

Associated Papers

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

De Novo Missense Variant in Bovine WDR33 Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus.

Bolcato M et al.

Journal of Veterinary Internal Medicine, 0

40525707 (PubMed )
Supplement: JVIM-39-e70144-s001.xlsx › Sheet1
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