Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A2
Variant:p.G423R
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SLC34A2

NM_006424.3:p.G423R

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

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.

Singh AK et al.

Bmc Medical Genomics, 2023

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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