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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM147

Variant:p.V133D

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TMEM147

NM_001242597.2:p.V133D

hg38:chr19:35547234 T>A

Associated Papers

A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.

Ghorashi T et al.

Neurogenetics, 2023

37668766 (PubMed )

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