Varaico: Literature-Extracted Genetic Variants

Gene:NPPA
Variant:p.M1K
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NPPA

NM_006172.4:p.M1K

Associated Papers

NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Esposito MV et al.

Diagnostics (basel, Switzerland), 2021

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Higuchi Y et al.

Annals of Neurology, 2016

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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."