Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP10-3
Variant:p.C124Y
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KRTAP10-3

NM_198696.3:p.C124Y

Associated Papers

Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.

Chen Y et al.

Frontiers in Medicine, 2022

36111109 (PubMed )
Supplement: Table_3.XLSX › rare_varaints

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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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."