Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.I319N
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KRT75

NM_004693.3:p.I319N

Associated Papers

The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.

Pittman M et al.

Genome Research, 2026

41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9

A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.

Borbaran Bravo N et al.

Blood, 2025

39642330 (PubMed )
Supplement: BLOOD_BLD-2023-022576-mmc5.xlsx › Tabelle1

Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.

Cortes-Urrea C et al.

Biomolecules, 2020

32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations
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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."