Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A2
Variant:p.G106R
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SLC34A2

NM_006424.3:p.G106R

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

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

A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis.

Izumi H et al.

Human Genome Variation, 2017

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

Pulmonary alveolar microlithiasis with homozygous c.316G > C (p.G106R) mutation: a case report.

Özbudak IH et al.

Turk Patoloji Dergisi, 2012

Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.

Corut A et al.

American Journal of Human Genetics, 2006

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."