Varaico: Literature-Extracted Genetic Variants

Gene:AREG
Variant:p.Q92*
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AREG

NM_001657.4:p.Q92*

Associated Papers

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Kalm T et al.

American Journal of Human Genetics, 2024

38772379 (PubMed )
Supplement: mmc3.pdf

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.

Kolesinska Z et al.

Endocrine Connections, 2018

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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."