Error 20534.error Detected By Database Dll Crystal Reports
in this study, we mapped non-syndromic cs in a four-generation family to a linkage interval on chromosome 2q22.3-2q32.1 (34.17cm), with a maximum lod score of 3.54. furthermore, a rare heterozygous variant in lrp2 (c.335a>g, p.q112r) located in the corresponding linkage interval that completely co-segregates with the disease in the family was detected by wes. this missense variant lrp2 c.335a>g exhibits a very low allelic frequency of 0.00002389 in gnomad and was absent in other public databases (1000g and topmed, table 2 ), indicating it was not a common benign polymorphism represented by these databases. wes also revealed another heterozygous variant of lrp2 (c.7274a>g, p.d2425g) in 2 additional affected individuals from another unrelated family with cs. both variants are highly conserved, absent or extremely rare in public databases; they were absent in 100 ethnically matched normal controls according to sanger sequencing. these mutations are predicted to be damaging by polyphen-2, sift and mutation taster. these data indicated that mutations in lrp2 are novel genetic causes of non-syndrome familial cs.
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Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected by database DLL
Error 20534. Error detected
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