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Table 1 Overview of the SLC34A2 variants investigated

From: Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis

Construct

Nucleotide change

Protein change

Patient origin

References

Lys304Ter

c.910A > T

p.Lys304Ter

China

[24, 25, 29]

Leu443fs

c.1328delT

p.Leu443ArgfsTer6

Turkey and Morocco

[22, 30]

Thr468del

c.1402_1404delACC

p.Thr468del

Denmark and USA*

[26, 28]

Gln486Ter

c.1456C > T

p.Gln486Ter

Turkey

[27]

  1. *Originally from Italy. SLC34A2 DNA reference sequence: Ensembl Transcript ID ENST00000382051.7 (GRCh38.p12 assembly)
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Human Genomics

ISSN: 1479-7364