Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A4
Variant:p.L436R
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SLC24A4

NM_153646.4:p.L436R

Associated Papers

Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta.

Seymen F et al.

Journal of Personalized Medicine, 2021

Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant.

Lepperdinger U et al.

Clinical Oral Investigations, 2020

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.

Khan SA et al.

Bmc Medical Genetics, 2020

A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

Jalloul AH et al.

The Journal of Biological Chemistry, 2016

Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.

Herzog CR et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2015

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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."