Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R438delFs
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SERPINC1

NM_000488.4:p.R438delFs

Associated Papers

Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.

Bravo-Pérez C et al.

Jci Insight, 2022

36214221 (PubMed )
Supplement: jciinsight-7-161430-s136.pdf
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