Varaico: Literature-Extracted Genetic Variants

Gene:ARCN1
Variant:p.R312*
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ARCN1

NM_001655.5:p.R312*

Associated Papers

Identification of a Fetal De Novo Splice Variant in ARCN1 Associated With Growth and Skeletal Abnormalities.

He W et al.

Maternal-fetal Medicine (wolters Kluwer Health, Inc.), 2025

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.

Ge Y et al.

Frontiers in Medicine, 2025

A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.

Chang G et al.

Bmc Pediatrics, 2024

Expanding the phenotypic spectrum of ARCN1-related syndrome.

Ritter AL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

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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."