Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.S296Y
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AAAS

NM_015665.6:p.S296Y

Associated Papers

Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.

Juścińska E et al.

Neurogenetics, 2026

Fertility and sexual activity in patients with Triple A syndrome.

Dumic KK et al.

Frontiers in Endocrinology, 2024

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

Singh K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

Patt H et al.

Endocrine Connections, 2017

A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.

Cherif Ben Abdallah L et al.

Hormone Research in Paediatrics, 2014

Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.

Dumic M et al.

European Journal of Pediatrics, 2012

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.

Dumić M et al.

European Journal of Pediatrics, 2011

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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."