Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.D260Splc
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SDS

NM_006843.3:p.D260Splc

Associated Papers

Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.

Wang H et al.

Frontiers in Endocrinology, 2021

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

Beer S et al.

Gut, 2013

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