Varaico: Literature-Extracted Genetic Variants

Gene:PDE11A
Variant:p.N214S
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PDE11A

NM_016953.4:p.N214S

Associated Papers

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.

Aslaksen S et al.

Journal of Translational Autoimmunity, 2019

32743495 (PubMed )
Supplement: mmc1.xlsx › Sheet1

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.

Testa F et al.

European Journal of Human Genetics : Ejhg, 2017

28272537 (PubMed )
Supplement: ejhg201723x3.xlsx › Sheet1
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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."