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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMH

Variant:p.T7P

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AMH

NM_000479.5:p.T7P

hg38:chr19:2249351 A>C

Associated Papers

Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.

Xu Y et al.

Orphanet Journal of Rare Diseases, 2024

39623453 (PubMed )

Supplement: 13023_2024_3472_MOESM1_ESM.docx

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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."