Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36
Variant:p.D558N
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ANKRD36

NM_001354587.1:p.D558N

Associated Papers

Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.

Gentien D et al.

Cell Reports, 2023

37708024 (PubMed )
Supplement: NIHMS1933915-supplement-2.xlsx › Supp_table_1

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.

Aghamir SMK et al.

Genes, 2023

37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__3.xlsx › _3

Integrative Analyses Identify Potential Key Genes and Calcium-Signaling Pathway in Familial Atrioventricular Nodal Reentrant Tachycardia Using Whole-Exome Sequencing.

Huang J et al.

Frontiers in Cardiovascular Medicine, 2022

35924220 (PubMed )
Supplement: Table_3.XLS › Supplementary_Table_3_1

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina A et al.

Bmc Medical Genomics, 2020

33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1

Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.

Zlotina A et al.

Frontiers in Genetics, 2018

29963074 (PubMed )
Supplement: Table_1.XLSX › ____1

Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.

Wen H et al.

Bmc Cancer, 2014

24969172 (PubMed )
Supplement: 1471-2407-14-470-S2.xlsx › Shared_variants
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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."