Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: ANGPTL4: 123G>A; Met41Ile

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.

Frontiers In Pediatrics

Calvache, Carlos A CA; Vásquez, Estefanía C EC; Romero, Vanessa I VI; Hosomichi, Kazuyoshi K; Pozo, Juan C JC

Publication Date: 2022

Variant appearance in text: rs186754194

PubMed Link: 36467484

Variant Present in the following documents:

• Datasheet1.pdf

View BVdb publication page

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The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: ANGPTL4: M41I

PubMed Link: 33133066

Variant Present in the following documents:

• Table_1.xlsx, sheet 6

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs186754194

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ANGPTL4: M41I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.

Plos Genetics

Ionita-Laza, Iuliana I; Capanu, Marinela M; De Rubeis, Silvia S; McCallum, Kenneth K; Buxbaum, Joseph D JD

Publication Date: 2014-12

Variant appearance in text: ANGPTL4: Met41Ile

PubMed Link: 25502226

Variant Present in the following documents:

• Main text
• pgen.1004729.pdf

View BVdb publication page

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