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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF170

Variant:p.A123fs

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RNF170

NM_030954.4:p.A123fs

hg38:chr8:42865445 TGC>N

Associated Papers

Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy.

Cook SR et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

39177409 (PubMed )

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