Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.P299A
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MAMLD1

NM_005491.5:p.P299A

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

Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.

Nagaraja MR et al.

Systems Biology in Reproductive Medicine, 2019

Single-nucleotide and copy-number variance related to severity of hypospadias.

Singh N et al.

Pediatric Surgery International, 2018

Polymorphism of 3' UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report.

Ratan SK et al.

Pediatric Surgery International, 2016

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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."