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Comment
. 2020 May;41(5):1069-1071.
doi: 10.1002/humu.24000.

Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

Stefania Battistini  1 , Claudia Ricci  1
Affiliations
Comment

Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

Stefania Battistini et al. Hum Mutat. 2020 May.
No abstract available

Keywords: KRIT1 gene; cerebral cavernous malformations; functional studies; in silico analysis; splicing variants; variant interpretation.

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References

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