[HTML] nature.com

[HTML][HTML] Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson, JM Hertz… - European journal of …, 2021 - nature.com
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …
被引用次数：80 相关文章

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson, JM Hertz… - European journal of …, 2021 - epublications.vu.lt
Abstract [eng] The recent Chandos House meeting of the Alport Variant Collaborative
extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and …

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson… - European …, 2021 - findresearchersdu.elsevierpure.com
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson, JM Hertz… - European Journal of …, 2021 - cir.nii.ac.jp
抄録< jats: title> Abstract</jats: title>< jats: p> The recent Chandos House meeting of the
Alport Variant Collaborative extended the indications for screening for pathogenic variants in …

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson… - … Journal of Human …, 2021 - portal.findresearcher.sdu.dk
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson… - … journal of human …, 2021 - pubmed.ncbi.nlm.nih.gov
The recent Chandos House meeting of the Alport Variant Collaborative extended the
indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson, JM Hertz… - European journal of …, 2021 - croris.hr
Sažetak The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

J Savige, H Storey, E Watson, JM Hertz… - European Journal of …, 2021 - europepmc.org
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson, JM Hertz… - European Journal of …, 2021 - ddd.uab.cat
The recent Chandos House meeting of the Alport Variant Collaborative extended the
indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson, JM Hertz… - EUROPEAN …, 2021 - iris.unicampania.it
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …