Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.P74R
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SIX3

NM_005413.4:p.P74R

Associated Papers

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.

Bando H et al.

Human Molecular Genetics, 2023

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.

Gergics P et al.

American Journal of Human Genetics, 2021

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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."