Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A2
Variant:p.Y455H
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SLC34A2

NM_006424.3:p.Y455H

Associated Papers

A novel compound heterozygous mutation in the SLC34A2 gene causes pulmonary alveolar microlithiasis.

Liu Q et al.

Qjm : Monthly Journal of the Association of Physicians, 2024

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.

Jönsson ÅLM et al.

Orphanet Journal of Rare Diseases, 2023

Pulmonary alveolar microlithiasis: no longer in the stone age.

Bendstrup E et al.

Erj Open Research, 2020

Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis.

Jönsson ÅLM et al.

The European Respiratory Journal, 2020

SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction.

Wang H et al.

Meta Gene, 2014

Differences in genetic characteristics between Chinese and non-Chinese patients with pulmonary alveolar microlithiasis-case series and a systematic review.

Guo M et al.

Therapeutic Advances in Respiratory Disease, 0

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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."