Varaico: Literature-Extracted Genetic Variants

Gene:USP17L2
Variant:p.Q83H
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USP17L2

NM_201402.3:p.Q83H

Associated Papers

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.

Raaz C et al.

Case Reports in Genetics, 2026

Identification of biallelic variations of CEP70 in patients with male infertility.

Ruan T et al.

Frontiers in Endocrinology, 2023

36967801 (PubMed )
Supplement: Table_1.xlsx › Patient_1

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

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_L04
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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."