Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene-Reference-Cited by-同舟云学术

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

Published:2020-04-14 Issue:5 Volume:41 Page:1072-1074
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Fusco Carmela¹^ORCID,Micale Lucia¹^ORCID,Castori Marco¹^ORCID

Affiliation:

1. Division of Medical GeneticsFondazione IRCCS‐Casa Sollievo della Sofferenza Foggia Italy

Funder

Italian Ministry of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23999

Reference6 articles.

1. Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene;Battistini S.;Human Mutation,2020

2. Cavernous Malformation of the Optic Nerve Mimicking Optic Neuritis

3. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

4. Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

5. A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

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