Varaico: Literature-Extracted Genetic Variants

Gene:CAPN2
Variant:p.E439_L440Splc
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CAPN2

NM_001748.5:p.E439_L440Splc

Associated Papers

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.

Lekszas C et al.

Elife, 2020

32101163 (PubMed )
Supplement: elife-51319-supp1.xlsx › Supplemental_Table_1._
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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."