Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.Q286*
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MAMLD1

NM_005491.5:p.Q286*

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

Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.

Wang Z et al.

Frontiers in Endocrinology, 2022

Mutational study of the MAMLD1-gene in hypospadias.

Chen Y et al.

European Journal of Medical Genetics, 0

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