Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.D109N
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GLA

NM_000169.3:p.D109N

Associated Papers

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy.

Nielsen SK et al.

Jacc. Advances, 2023

38938358 (PubMed )
Supplement: mmc1.docx

Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS).

Lenders M et al.

Clinical Pharmacology and Therapeutics, 2020

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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."