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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP1R21

Variant:p.N37fs

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PPP1R21

NM_001135629.3:p.N37fs

hg38:chr2:48451059 AAT>N

Associated Papers

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Sanderson LE et al.

Brain : a Journal of Neurology, 2021

33764426 (PubMed )

Supplement: awaa459_supplementary_data.zip › brain-2020-00832-File005.pdf

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