Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A2
Variant:p.K304*
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SLC34A2

NM_006424.3:p.K304*

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

Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review.

Zhang M et al.

Clinical Case Reports, 2023

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 caused by SLC34A2 gene compound heterozygous variations in a child].

Liu DG et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022

Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis.

Jönsson ÅLM et al.

Human Genomics, 2022

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

Pulmonary alveolar microlithiasis: A case report and review of the literature.

Zhang XD et al.

Experimental and Therapeutic Medicine, 2018

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

SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures.

Yin X et al.

Respiratory Medicine, 2013

[A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis].

Zhong YQ et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009

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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