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Table 2 Differing frequencies of missense mutations vs. truncating mutations (nonsense, frameshift, splice site and major deletions) in SDHB and SDHD.

From: The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

Gene

SDHB

%

SDHD

%

Type of Variant

Missense

19

40

11

26

Truncating (incl. splice site)

28

60

31

74

Total

47

 

42

 
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BMC Medical Genetics

ISSN: 1471-2350

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