Varaico: Literature-Extracted Genetic Variants

Gene:RNPC3
Variant:p.Q87*
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RNPC3

NM_017619.4:p.Q87*

Associated Papers

Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.

Verberne EA et al.

American Journal of Medical Genetics. Part A, 2022

Advances in differential diagnosis and management of growth hormone deficiency in children.

Hage C et al.

Nature Reviews. Endocrinology, 2021

Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.

Yamada M et al.

American Journal of Medical Genetics. Part A, 2021

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.

Verberne EA et al.

American Journal of Medical Genetics. Part A, 2020

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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."