Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.K117_P118Splc
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AKR1B1

NM_001628.4:p.K117_P118Splc

Associated Papers

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.

Oh RY et al.

Hgg Advances, 2024

38659227 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome.

Kharrat M et al.

Steroids, 2019

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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."