Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.N132T
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SMN1

NM_000344.4:p.N132T

Associated Papers

Spinal muscular atrophies.

Darras BT

Pediatric Clinics of North America, 2015

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Rudnik-Schöneborn S et al.

Neurology, 2013

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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."