Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A2
Variant:p.Q486*
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SLC34A2

NM_006424.3:p.Q486*

Associated Papers

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

Spatial transcriptomics reveal topological immune landscapes of Asian head and neck angiosarcoma.

Loh JW et al.

Communications Biology, 2023

37106027 (PubMed )
Supplement: 42003_2023_4856_MOESM5_ESM.xlsx › Supplementary_Data_2

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

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

Yin X et al.

Respiratory Medicine, 2013

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

Proesmans M et al.

European Journal of Pediatrics, 2012

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."