Varaico: Literature-Extracted Genetic Variants

Gene:SLC66A3
Variant:p.A147V
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SLC66A3

NM_152391.5:p.A147V

Associated Papers

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Hebert E et al.

Genes, 2017

29057844 (PubMed )
Supplement: genes-08-00276-s001.pdf
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