Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.N239D
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GNAS

NM_000516.7:p.N239D

Associated Papers

cfDNA Chimerism and Somatic Mutation Testing in Early Prediction of Relapse After Allogeneic Stem Cell Transplantation for Myeloid Malignancies.

Rowley SD et al.

Cancers, 2025

40002220 (PubMed )
Supplement: cancers-17-00625-s001.zip › cancers-3405985-supplementary.pdf

Rare Case of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation.

Mangu G et al.

Jcem Case Reports, 2023

Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia.

Long XD et al.

Bmc Medical Genetics, 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."