Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.M1022V
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MED12

NM_005120.3:p.M1022V

Associated Papers

A Hemizygous MED12 Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case Report.

Koga N et al.

Hormone Research in Paediatrics, 2026

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Maia N et al.

American Journal of Medical Genetics. Part A, 2023

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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."