Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.G1218E
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MED12

NM_005120.3:p.G1218E

Associated Papers

Eye and ocular adnexa manifestations of MED12-related disorders.

Shah A et al.

Ophthalmic Genetics, 2022

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

Plassche SV et al.

Genes, 2021

33925166 (PubMed )
Supplement: genes-12-00663-s001.zip › genes-1190333-supplementary.xlsx › Sheet1

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Polla DL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."