Varaico: Literature-Extracted Genetic Variants

Gene:PAM
Variant:p.T304S
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PAM

NM_001177306.2:p.T304S

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

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

Jönsson ÅLM et al.

Human Genomics, 2022

Pulmonary alveolar microlithiasis.

Kosciuk P et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2020

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

Yin X et al.

Respiratory Medicine, 2013

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."