Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.L194P
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AR

NM_000044.6:p.L194P

Associated Papers

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

Lian J et al.

The Journal of Allergy and Clinical Immunology, 2018

Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.

Engeli RT et al.

The Journal of Sexual Medicine, 2017

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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."