Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.P78L
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LIPA

NM_000235.4:p.P78L

Associated Papers

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_10

Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

Bernstein DL et al.

Journal of Hepatology, 2013

[Lysosomal acid lipase deficiency. Overview of Czech patients].

Elleder M et al.

Casopis Lekaru Ceskych, 1999

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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."