Varaico: Literature-Extracted Genetic Variants

Gene:CAPNS1
Variant:p.S70fs
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CAPNS1

NM_001749.4:p.S70fs

Associated Papers

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension.

Postma AV et al.

Genetics in Medicine Open, 2023

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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."