Varaico: Literature-Extracted Genetic Variants

Gene:SIGLEC14
Variant:p.A364V
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SIGLEC14

NM_001098612.3:p.A364V

Associated Papers

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

Chiabrando D et al.

Plos Genetics, 2016

27923065 (PubMed )
Supplement: pgen.1006461.s006.xlsx › homozygous__Family_1_

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656
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