Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.C739*
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CASR

NM_000388.4:p.C739*

Associated Papers

Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.

Semenova PI et al.

Human Cell, 2024

Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene.

Panova AV et al.

Stem Cell Research, 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."