Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.R381*
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MAMLD1

NM_005491.5:p.R381*

Associated Papers

MAMLD1 and Differences/Disorders of Sex Development: An Update.

Miyado M et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.

Li L et al.

Orphanet Journal of Rare Diseases, 2020

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.

Camats N et al.

Plos One, 2015

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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."