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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAMLD1

Variant:p.Q476_Q477insQ

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MAMLD1

NM_001177465.3:p.Q476_Q477insQ

hg38:chrX:150471074 C>CNNN

Associated Papers

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

32690052 (PubMed )

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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."