Publications:

Molecular convergence and transgenic evidence suggest a single origin of laryngeal echolocation in bats.

Iscience

Liu, Zhen Z; Chen, Peng P; Xu, Dong-Ming DM; Qi, Fei-Yan FY; Guo, Yuan-Ting YT; Liu, Qi Q; Bai, Jing J; Zhou, Xin X; Shi, Peng P

Publication Date: 2022-04-15

Variant appearance in text: NPC1: Q928P

PubMed Link: 35391832

Variant Present in the following documents:

• mmc8.xlsx, sheet 1

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Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

International Journal Of Molecular Sciences

Seker Yilmaz, Berna B; Baruteau, Julien J; Rahim, Ahad A AA; Gissen, Paul P

Publication Date: 2020-07-17

Variant appearance in text: NPC1: 2783A>C; Q928P

PubMed Link: 32709131

Variant Present in the following documents:

• Main text
• ijms-21-05059.pdf

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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: NPC1: Q928P; rs28940897

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: NPC1: Q928P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page