Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.P222delFs
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STAR

NM_000349.3:p.P222delFs

Associated Papers

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.

Ruiz-Babot G et al.

Cell Reports, 2018

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P

Molecular and Cellular Endocrinology, 2015

[NR5A1 and ovarian failure].

Bashamboo A et al.

Medecine Sciences : M/s, 2009

Mutations in NR5A1 associated with ovarian insufficiency.

Lourenço D et al.

The New England Journal of Medicine, 2009

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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."