Varaico: Literature-Extracted Genetic Variants

Gene:FHIP2B
Variant:p.G238C
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FHIP2B

NM_022749.7:p.G238C

Associated Papers

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Wagner M et al.

Nature Communications, 2019

31636353 (PubMed )
Supplement: 41467_2019_12620_MOESM2_ESM.xlsx › Tabelle1
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