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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MANEAL

Variant:p.D150fs

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MANEAL

NM_001113482.2:p.D150fs

hg38:chr1:37794630 GAC>N

Associated Papers

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.

Herebian D et al.

European Journal of Human Genetics : Ejhg, 2017

28612835 (PubMed )

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