Varaico: Literature-Extracted Genetic Variants

Gene:MUC12
Variant:p.T3428I
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MUC12

NM_001164462.2:p.T3428I

Associated Papers

Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.

Saracino AM et al.

Archives of Dermatological Research, 2023

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1

Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.

Diao H et al.

Medicine, 2018

30431579 (PubMed )
Supplement: medi-97-e13117-s002.xlsx › Sheet1
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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."