Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.C243Y
Back to variants list

MAMLD1

NM_005491.5:p.C243Y

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

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).

Hughes LA et al.

Endocrine Connections, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."