Associated Papers
Biallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy.
Al Rawahi Y et al.
American Journal of Medical Genetics. Part A, 2024
Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea.
Faller N et al.
Plos One, 2014
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