Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: RYR1: V1294F

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy.

Frontiers In Neurology

Chang, Xingzhi X; Wei, Risheng R; Wei, Cuijie C; Liu, Jieyu J; Qin, Lun L; Yan, Hui H; Ma, Yinan Y; Wang, Zhaoxia Z; Xiong, Hui H

Publication Date: 2022

Variant appearance in text: RYR1: 3880G>T

PubMed Link: 35693006

Variant Present in the following documents:

• Main text
• fneur-13-870285.pdf

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Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.

Bmc Pediatrics

Zhang, Yu Y; Yan, Hui H; Liu, Jieyu J; Yan, Huifang H; Ma, Yinan Y; Wei, Cuijie C; Wang, Zhaoxia Z; Xiong, Hui H; Chang, Xingzhi X

Publication Date: 2022-01-26

Variant appearance in text: RYR1: Val1294Phe

PubMed Link: 35081925

Variant Present in the following documents:

• Main text
• 12887_2021_Article_3024.pdf

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Coding-Complete Genome Sequences of 23 SARS-CoV-2 Samples from the Philippines.

Microbiology Resource Announcements

Velasco, John Mark JM; Chinnawirotpisan, Piyawan P; Joonlasak, Khajohn K; Manasatienkij, Wudtichai W; Huang, Angkana A; Valderama, Maria Theresa MT; Diones, Paula Corazon PC; Leonardia, Susie S; Timbol, Maria Leanor ML; Navarro, Fatima Claire FC; Villa, Vicente V; Tabinas, Henry H; Chua, Domingo D; Fernandez, Stefan S; Jones, Anthony A; Klungthong, Chonticha C

Publication Date: 2020-10-22

Variant appearance in text: MHS: V1294F

PubMed Link: 33093050

Variant Present in the following documents:

• Main text

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