Same mutation

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VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments
Type 2B	3946G>A	V1316M	No	Spain	Casana
Type 2B	3946G>A	V1316M	Yes	Jamaica	UNC Chapel Hill	Exon 28 sequenced, patient is hetrozygou More ...
Type 2B	3946G>A	V1316M	No	Netherlands	Bertina	De novo mutation
Type 2B	3946G>A	V1316M	No			1 germ line mosaic
Type 2B	3946G>A	V1316M	No	Italy	Sadler
Type 2B	3946G>A	V1316M	No	US	Ginsburg
Type 2B	3946G>A	V1316M	?	Canada	Lillicrap	Germinal Mosaic
Type 2B	3946G>A	V1316M	?	US	Montgomery
Type 2B	3946G>A	V1316M	?
Type 2B	3946G>A	V1316M	No	Spain	Batlle	RIPA observed at low ristocetin concentr More ...