Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.L126*
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REEP1

NM_001371279.1:p.L126*

Associated Papers

Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.

Krenn M et al.

Journal of Neurology, 2024

38127101 (PubMed )
Supplement: 415_2023_12101_MOESM2_ESM.xlsx › Tabellenblatt1
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