Varaico: Literature-Extracted Genetic Variants

Gene:KRT18
Variant:p.M58_G59insFs
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KRT18

NM_000224.3:p.M58_G59insFs

Associated Papers

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.

Guo R et al.

Scientific Reports, 2025

40715143 (PubMed )
Supplement: 41598_2025_6977_MOESM2_ESM.xlsx › Sheet1

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

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

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
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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."