Varaico: Literature-Extracted Genetic Variants

Gene:ABCA3
Variant:p.G900_L901Splc
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ABCA3

NM_001089.3:p.G900_L901Splc

Associated Papers

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.

Popp B et al.

Bmc Cancer, 2019

31077186 (PubMed )
Supplement: 12885_2019_5633_MOESM2_ESM.xlsx › LOH_ARID1BandTSC2

[Pulmonary surfactant protein adenosine triphosphate-binding-cassette-A3 gene composite mutations in infant congenital interstitial lung disease: report of a case and review of literature].

Xie N et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016

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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."