Varaico: Literature-Extracted Genetic Variants

Gene:KAZALD1
Variant:p.C76G
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KAZALD1

NM_030929.5:p.C76G

Associated Papers

Whole exome sequencing reveals novel variants associated with diminished ovarian reserve in young women.

Li N et al.

Frontiers in Genetics, 2023

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle

[Mutational landscape of prostate tumors revealed by whole-exome sequencing].

Gilyazova IR et al.

Genetika, 2016

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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."