Varaico: Literature-Extracted Genetic Variants

Gene:ADD2
Variant:p.T552M
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ADD2

NM_001617.4:p.T552M

Associated Papers

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.

Maroofian R et al.

Hgg Advances, 2024

39257002 (PubMed )
Supplement: mmc2.xlsx › Table_S1

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Hettiaracchchi D et al.

Bmc Medical Genetics, 2018

30041615 (PubMed )
Supplement: 12881_2018_646_MOESM1_ESM.xlsx › 949_variants

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1535.548
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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."