Varaico: Literature-Extracted Genetic Variants

Gene:ADSS1
Variant:p.I350fs
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ADSS1

NM_199165.2:p.I350fs

Associated Papers

An autopsied case of ADSSL1 myopathy.

Motoda A et al.

Neuromuscular Disorders : Nmd, 2021

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.

Saito Y et al.

Neurology, 2020

Distal myopathy with ADSSL1 mutations in Korean patients.

Park HJ et al.

Neuromuscular Disorders : Nmd, 2017

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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."