Varaico: Literature-Extracted Genetic Variants

Gene:SCLT1
Variant:p.D480E
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SCLT1

NM_144643.4:p.D480E

Associated Papers

Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome.

Katagiri S et al.

Scientific Reports, 2018

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