ABCA3 p.Asn124Ser
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PMID: 24142515
[PubMed]
Beers MF et al: "Disruption of N-linked glycosylation promotes proteasomal degradation of the human ATP-binding cassette transporter ABCA3."
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Sentence
Comment
233
Finally, ABCA3 sequence variants carrying a N124S (rs142977595) or N140H (rs45447801) substitution naturally occur in the human population [Human Amino Acid Missense Variant Server Database (humsavar) (http://decrypthon.igbmc.
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ABCA3 p.Asn124Ser 24142515:233:44
status: NEW