Varaico: Literature-Extracted Genetic Variants

Gene:SF1
Variant:p.L239P
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SF1

NM_004630.4:p.L239P

Associated Papers

The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China.

Wang Y et al.

Frontiers in Genetics, 2025

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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."