Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.L188P
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THPO

NM_000460.4:p.L188P

Associated Papers

IKAROS-how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency.

Strauss T et al.

Frontiers in Pediatrics, 2024

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.

Watanabe N et al.

Journal of Leukocyte Biology, 2021

Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency.

Zoccolillo M et al.

Blood Advances, 2021

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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."